1932
0
  1. Home
  2. A-Z Publications
  3. Annual Review of Genomics and Human Genetics
  4. Volume 19, 2018
  5. Article

Annual Review of Genomics and Human Genetics

Volume 19, 2018

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations

Abstract

This review highlights molecular genetic studies of monogenic traits where common pathogenic mutations occur in black families from sub-Saharan Africa. Examples of founder mutations have been identified for oculocutaneous albinism, cystic fibrosis, Fanconi anemia, and Gaucher disease. Although there are few studies from Africa, some of the mutations traverse populations across the continent, and they are almost all different from the common mutations observed in non-African populations. Myotonic dystrophy is curiously absent among Africans, and nonsyndromic deafness does not arise from mutations in and . Locus heterogeneity is present for Huntington disease, with two common triplet expansion loci in Africa, and These findings have important clinical consequences for diagnosis, treatment, and genetic counseling in affected families. We currently have just a glimpse of the molecular etiology of monogenic diseases in sub-Saharan Africa, a proverbial “ears of the hippo” situation.

Keyword(s): African data scarcity, allelic heterogeneity, common pathogenic variants, founder effect, locus heterogeneity, monogenic traits, sub-Saharan Africa
Loading

Article metrics loading...

/content/journals/10.1146/annurev-genom-083117-021256
2018-08-31
2024-04-24
Loading full text...

Full text loading...

/deliver/fulltext/genom/19/1/annurev-genom-083117-021256.html?itemId=/content/journals/10.1146/annurev-genom-083117-021256&mimeType=html&fmt=ahah

Literature Cited

  1. 1.  Aiyesimoju AB, Osuntokun BO, Bademosi O, Adeuja AO 1984. Hereditary neurodegenerative disorders in Nigerian Africans. Neurology 34:361–62
     [Google Scholar]
  2. 2.  Alkali NH, Bwala SA, Alimi SA, Oyakhire SI 2016. Spinocerebellar ataxia type-7: report of a family in Northwest Nigeria. Ann. Afr. Med. 15:87–90
     [Google Scholar]
  3. 3. Alliance Accel. Excell. Sci. Afr. (AESA), Bill Melinda Gates Found. 2016. Roundtable discussion: precision public health in Africa Rep., AESA, Nairobi, Kenya, and Bill Melinda Gates Found Seattle, WA: http://aasciences.ac.ke/download/5880652658839
  4. 4.  Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A 2017. A systematic review of the Huntington disease-like 2 phenotype. J. Huntingt. Dis. 6:37–46
     [Google Scholar]
  5. 5.  Arndt S, Heitner R, Lane A, Ramsay M 2009. Glucocerebrosidase gene mutations in black South Africans with Gaucher disease. Blood Cells Mol. Dis. 43:129–33
     [Google Scholar]
  6. 6.  Badens C, Courrier S, Aquaron R 2006. A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism. J. Dermatol. Sci. 42:121–24
     [Google Scholar]
  7. 7.  Baine FK, Kay C, Ketelaar ME, Collins JA, Semaka A et al. 2013. Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes. Eur. J. Hum. Genet. 21:1120–27
     [Google Scholar]
  8. 8.  Baine FK, Krause A, Greenberg LJ 2016. The frequency of Huntington disease and Huntington disease-like 2 in the South African population. Neuroepidemiology 46:198–202
     [Google Scholar]
  9. 9.  Ben Halim N, Hsouna S, Lasram K, Rejeb I, Walha A et al. 2016. Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia. Am. J. Hum. Biol. 28:171–80
     [Google Scholar]
  10. 10.  Biery BJ, Stein DE, Morton DH, Goodman SI 1996. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am. J. Hum. Genet. 59:1006–11
     [Google Scholar]
  11. 11.  Bird TD 2016. Hereditary ataxia overview. GeneReviews MP Adam, HH Ardinger, RA Pagon, SE Wallace Seattle: Univ. Wash https://www.ncbi.nlm.nih.gov/books/NBK1138
    [Google Scholar]
  12. 12.  Bitoungui VJ, Pule GD, Hanchard N, Ngogang J, Wonkam A 2015. Beta-globin gene haplotypes among cameroonians and review of the global distribution: Is there a case for a single sickle mutation origin in Africa?. Omics 19:171–79
     [Google Scholar]
  13. 13.  Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC et al. 1996. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as “OCA3. .” Am. J. Hum. Genet. 58:1145–56
     [Google Scholar]
  14. 14.  Bosch J, Lebeko K, Nziale JJ, Dandara C, Makubalo N, Wonkam A 2014. In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes. Omics 18:481–85
     [Google Scholar]
  15. 15.  Bryer A, Krause A, Bill P, Davids V, Bryant D et al. 2003. The hereditary adult-onset ataxias in South Africa. J. Neurol. Sci. 216:47–54
     [Google Scholar]
  16. 16.  Bultron G, Kacena K, Pearson D, Boxer M, Yang R et al. 2010. The risk of Parkinson's disease in type 1 Gaucher disease. J. Inherit. Metab. Dis. 33:167–73
     [Google Scholar]
  17. 17.  Campbell MC, Hirbo JB, Townsend JP, Tishkoff SA 2014. The peopling of the African continent and the diaspora into the new world. Curr. Opin. Genet. Dev. 29:120–32
     [Google Scholar]
  18. 18.  Carles S, Desgeorges M, Goldman A, Thiart R, Guittard C et al. 1996. First report of CFTR mutations in black cystic fibrosis patients of southern African origin. J. Med. Genet. 33:802–4
     [Google Scholar]
  19. 19. Cent. Dis. Control Prev. (CDC). 2016. Sickle cell disease (SCD): data & statistics https://www.cdc.gov/ncbddd/sicklecell/data.html
    [Google Scholar]
  20. 20.  Chiurazzi P, Destro-Bisol G, Genuardi M, Oostra BA, Spedini G, Neri G 1996. Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population. Am. J. Med. Genet. 64:216–19
     [Google Scholar]
  21. 21.  Clegg JB, Weatherall DJ 1999. Thalassemia and malaria: new insights into an old problem. Proc. Assoc. Am. Phys. 111:278–82
     [Google Scholar]
  22. 22.  Dean G 1971. The Porphyrias: A Story of Inheritance and Environment London: Pitman Med.
  23. 23.  des Georges M, Guittard C, Templin C, Altieri JP, de Carvalho C et al. 2008. WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient. J. Mol. Diagn. 10:544–48
     [Google Scholar]
  24. 24.  Dork T, El-Harith EH, Stuhrmann M, Macek M Jr., Egan M et al. 1998. Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G→A in diverse populations. Am. J. Hum. Genet. 63:656–62
     [Google Scholar]
  25. 25.  Essop FB, Krause A 2013. Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: a 20-year review. S. Afr. Med. J. 103:994–98
     [Google Scholar]
  26. 26.  Fackenthal JD, Zhang J, Zhang B, Zheng Y, Hagos F et al. 2012. High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. Int. J. Cancer 131:1114–23
     [Google Scholar]
  27. 27.  Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W et al. 2000. Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group. Blood 96:4064–70
     [Google Scholar]
  28. 28.  Feben C, Kromberg JG, Wainwright R, Stones D, Poole J et al. 2015. Hematological consequences of a FANCG founder mutation in Black South African patients with Fanconi anemia. Blood Cells Mol. Dis. 54:270–74
     [Google Scholar]
  29. 29.  Feben C, Kromberg JG, Wainwright R, Stones D, Sutton C et al. 2014. Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation. Genet. Med. 16:400–6
     [Google Scholar]
  30. 30.  Feben C, Spencer C, Lochan A, Laing N, Fieggen K et al. 2017. Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia. Fam. Cancer 16:441–46
     [Google Scholar]
  31. 31.  Feben C, Wainstein T, Kromberg J, Essop F, Krause A 2018. Fanconi anaemia in South Africa: past, present and future. S. Afr. Med. J. 108:393–98
     [Google Scholar]
  32. 32.  Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL et al. 2017. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N. Engl. J. Med. 377:1723–32
     [Google Scholar]
  33. 33.  Francies FZ, Wainstein T, De Leeneer K, Cairns A, Murdoch M et al. 2015. BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer. BMC Cancer 15:912
     [Google Scholar]
  34. 34.  Goldberg PA, Madden MV, Harocopos C, Felix R, Westbrook C, Ramesar RS 1998. In a resource-poor country, mutation identification has the potential to reduce the cost of family management for hereditary nonpolyposis colorectal cancer. Dis. Colon Rectum 41:1250–53
     [Google Scholar]
  35. 35.  Goldman A 1997. Trinucleotide repeat disorders in Southern African populations: a molecular study PhD Thesis, Univ. Witwatersrand, Johannesburg, S. Afr.
  36. 36.  Goldman A, Graf C, Ramsay M, Leisegang F, Westwood AT 2003. Molecular diagnosis of cystic fibrosis in South African populations. S. Afr. Med. J. 93:518–19
     [Google Scholar]
  37. 37.  Goldman A, Jenkins T, Krause A 1998. Molecular evidence that fragile X syndrome occurs in the South African black population. J. Med. Genet. 35:878
     [Google Scholar]
  38. 38.  Goldman A, Krause A, Ramsay M, Jenkins T 1996. Founder effect and prevalence of myotonic dystrophy in South Africans: molecular studies. Am. J. Hum. Genet. 59:445–52
     [Google Scholar]
  39. 39.  Goldman A, Ramsay M, Jenkins T 1994. Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. J. Med. Genet. 31:37–40
     [Google Scholar]
  40. 40.  Greenberg J, Solomon GA, Vorster AA, Heckmann J, Bryer A 2006. Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. Clin. Genet. 70:415–17
     [Google Scholar]
  41. 41.  Grønskov K, Ek J, Brondum-Nielsen K 2007. Oculocutaneous albinism. Orphanet J. Rare Dis. 2:43
     [Google Scholar]
  42. 42.  Grove SS 1959. Fibrocystic disease of the pancreas in the Bantu. S. Afr. J. Lab. Clin. Med. 5:113–19
     [Google Scholar]
  43. 43.  H3Africa Consort 2014. Enabling the genomic revolution in Africa. Science 344:1346–48
     [Google Scholar]
  44. 44.  Habara A, Steinberg MH 2016. Minireview: genetic basis of heterogeneity and severity in sickle cell disease. Exp. Biol. Med. 241:689–96
     [Google Scholar]
  45. 45.  Halperin A, Elstein D, Zimran A 2006. Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol. Dis. 36:426–28
     [Google Scholar]
  46. 46.  Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A et al. 2002. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum. Mol. Genet. 11:833–40
     [Google Scholar]
  47. 47.  Harteveld CL, Higgs DR 2010. Alpha-thalassaemia. Orphanet J. Rare Dis. 5:13
     [Google Scholar]
  48. 48.  Hayden MR, MacGregor JM, Beighton PH 1980. The prevalence of Huntington's chorea in South Africa. S. Afr. Med. J. 58:193–96
     [Google Scholar]
  49. 49.  Hendrickson BC, Donohoe C, Akmaev VR, Sugarman EA, Labrousse P et al. 2009. Differences in SMN1 allele frequencies among ethnic groups within North America. J. Med. Genet. 46:641–44
     [Google Scholar]
  50. 50.  Hopley M, Huddle KR 1997. Multiple endocrine neoplasia type 2A in a black South African family. S. Afr. Med. J. 87:371–72
     [Google Scholar]
  51. 51.  Howes RE, Patil AP, Piel FB, Nyangiri OA, Kabaria CW et al. 2011. The global distribution of the Duffy blood group. Nat. Commun. 2:266
     [Google Scholar]
  52. 52.  Hruska KS, LaMarca ME, Scott CR, Sidransky E 2008. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum. Mutat. 29:567–83
     [Google Scholar]
  53. 53.  Hull PR 1986. Keratolytic Winter Erythema (Oudtshoorn Disease): Clinical, Genetic and Ultrastructural Aspects Johannesburg, S. Afr: Univ. Witwatersrand
  54. 54.  Jacyk WK, Lodder JV, Dreyer L 1988. Pseudoxanthoma elasticum in South African black patients. A report on 7 cases. S. Afr. Med. J. 74:184–86
     [Google Scholar]
  55. 55.  Javidnia H, Carson N, Awubwa M, Byaruhanga R, Mack D, Vaccani JP 2014. Connexin gene mutations among Ugandan patients with nonsyndromic sensorineural hearing loss. Laryngoscope 124:E373–76
     [Google Scholar]
  56. 56.  Kabahuma RI, Ouyang X, Du LL, Yan D, Hutchin T et al. 2011. Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population. Int. J. Pediatr. Otorhinolaryngol. 75:611–17
     [Google Scholar]
  57. 57.  Kasembeli AN, Duarte R, Ramsay M, Mosiane P, Dickens C et al. 2015. APOL1 risk variants are strongly associated with HIV-associated nephropathy in black South Africans. J. Am. Soc. Nephrol. 26:2882–90
     [Google Scholar]
  58. 58.  Kasembeli AN, Duarte R, Ramsay M, Naicker S 2015. African origins and chronic kidney disease susceptibility in the human immunodeficiency virus era. World J. Nephrol. 4:295–306
     [Google Scholar]
  59. 59.  Kay C, Collins JA, Wright GEB, Baine F, Miedzybrodzka Z et al. 2018. The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population. Am. J. Med. Genet. B 177:346–57
     [Google Scholar]
  60. 60.  Kay C, Collins JA, Skotte NH, Southwell AL, Warby SC et al. 2015. Huntingtin haplotypes provide prioritized target panels for allele-specific silencing in Huntington disease patients of European ancestry. Mol. Ther. 23:1759–71
     [Google Scholar]
  61. 61.  Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK et al. 1989. Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073–80
     [Google Scholar]
  62. 62.  Kerr R, Stevens G, Manga P, Salm S, John P et al. 2000. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Hum. Mutat. 15:166–72
     [Google Scholar]
  63. 63.  Ko WY, Rajan P, Gomez F, Scheinfeldt L, An P et al. 2013. Identifying Darwinian selection acting on different human APOL1 variants among diverse African populations. Am. J. Hum. Genet. 93:54–66
     [Google Scholar]
  64. 64.  Kotze MJ, Langenhoven E, Warnich L, du Plessis L, Marx MP et al. 1989. The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia. S. Afr. Med. J. 76:399–401
     [Google Scholar]
  65. 65.  Krahe R, Eckhart M, Ogunniyi AO, Osuntokun BO, Siciliano MJ, Ashizawa T 1995. De novo myotonic dystrophy mutation in a Nigerian kindred. Am. J. Hum. Genet. 56:1067–74
     [Google Scholar]
  66. 66.  Krause A, Feben C, Van Wyk C, Huddle KR, Raal FJ 2010. Case studies: unusual phaeochromocytomas in African families: the importance of genetic testing. JEMDSA 15:92–94
     [Google Scholar]
  67. 67.  Krause A, Mitchell C, Essop F, Tager S, Temlett J et al. 2015. Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. Am. J. Med. Genet. B 168:573–85
     [Google Scholar]
  68. 68.  Kromberg JG 2018. Genetic counselling and albinism. See Ref. 73 203–33
  69. 69.  Kromberg JG 2018. Psychosocial and cultural aspects of albinism. See Ref. 73 171–201
  70. 70.  Kromberg JG, Bothwell J, Kidson SH, Manga P, Kerr R, Jenkins T 2012. Types of albinism in the black Southern Africa population. East Afr. Med. J. 89:20–27
     [Google Scholar]
  71. 71.  Kromberg JG, Castle DJ, Zwane EM, Bothwell J, Kidson S et al. 1990. Red or rufous albinism in southern Africa. Ophthalmic Paediatr. Genet. 11:229–35
     [Google Scholar]
  72. 72.  Kromberg JG, Jenkins T 1982. Prevalence of albinism in the South African negro. S. Afr. Med. J. 61:383–86
     [Google Scholar]
  73. 73.  Kromberg JG, Manga P, eds. 2018. Albinism in Africa San Diego, CA: Academic
  74. 74.  Kromberg JG, Sizer EB, Christianson AL 2013. Genetic services and testing in South Africa. J. Community Genet. 4:413–23
     [Google Scholar]
  75. 75.  Labrum R, Krause A, Rodda J 2006. Genetic testing for spinal muscular atrophy (SMA) in South Africa. S. Afr. Med. J. 96:200
     [Google Scholar]
  76. 76.  Labrum R, Rodda J, Krause A 2007. The molecular basis of spinal muscular atrophy (SMA) in South African black patients. Neuromuscul. Disord. 17:684–92
     [Google Scholar]
  77. 77.  Lambie L, Amin R, Essop F, Cnaan A, Krause A, Guay-Woodford LM 2015. Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD. Pediatr. Nephrol. 30:273–79
     [Google Scholar]
  78. 78.  Lasisi AO, Bademci G, Foster J II, Blanton S, Tekin M 2014. Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria. Int. J. Pediatr. Otorhinolaryngol. 78:1870–73
     [Google Scholar]
  79. 79.  Le Saux O Beck K, Sachsinger C, Silvestri C, Treiber C et al. 2001. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am. J. Hum. Genet. 69:749–64
     [Google Scholar]
  80. 80.  Le Saux O Beck K, Sachsinger C, Treiber C, Goring HH et al. 2002. Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. Hum. Genet. 111:331–38
     [Google Scholar]
  81. 81.  Lebeko K, Manyisa N, Chimusa ER, Mulder N, Dandara C, Wonkam A 2017. A genomic and protein-protein interaction analyses of nonsyndromic hearing impairment in Cameroon using targeted genomic enrichment and massively parallel sequencing. Omics 21:90–99
     [Google Scholar]
  82. 82.  Lebeko K, Sloan-Heggen CM, Noubiap JJ, Dandara C, Kolbe DL et al. 2016. Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families. Clin. Genet. 90:288–90
     [Google Scholar]
  83. 83.  Leffler EM, Band G, Busby GBJ, Kivinen K, Le QS et al. 2017. Resistance to malaria through structural variation of red blood cell invasion receptors. Science 356:eaam6393
     [Google Scholar]
  84. 84.  Leitersdorf E, Van der Westhuyzen DR, Coetzee GA, Hobbs HH 1989. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. J. Clin. Investig. 84:954–61
     [Google Scholar]
  85. 85.  Levin SE, Blumberg H, Zamit R, Schmaman A, Wagstaff L 1967. Mucoviscidosis (cystic fibrosis of the pancreas) in Bantu twin neonates. S. Afr. Med. J. 41:482–85
     [Google Scholar]
  86. 86.  Limgala RP, Ioanou C, Plassmeyer M, Ryherd M, Kozhaya L et al. 2016. Time of initiating enzyme replacement therapy affects immune abnormalities and disease severity in patients with Gaucher disease. PLOS ONE 11:e0168135
     [Google Scholar]
  87. 87.  Lombard EH, Kromberg JG, Thomson PD, Milner LS, van Biljon I, Jenkins T 1989. Autosomal recessive polycystic kidney disease. Evidence for high frequency of the gene in the Afrikaans-speaking population. S. Afr. Med. J. 76:321–23
     [Google Scholar]
  88. 88.  Lund PM 1996. Distribution of oculocutaneous albinism in Zimbabwe. J. Med. Genet. 33:641–44
     [Google Scholar]
  89. 89.  Lund PM, Puri N, Durham-Pierre D, King RA, Brilliant MH 1997. Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. J. Med. Genet. 34:733–35
     [Google Scholar]
  90. 90.  Lund PM, Roberts M 2018. Prevalence and population genetics of albinism: surveys in Zimbabwe, Namibia and Tanzania. See Ref. 73 81–98
  91. 91.  Macaulay S, Goodyear QC, Kruger M, Chen W, Essop F, Krause A 2018. The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. Fam. Cancer. In press. https://doi.org/10.1007/s10689-018-0075-5
    [Crossref]
  92. 92.  MacDonald ME, Ambrose CM, Duyao MP, Myers RH, Lin C et al. 1993. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971–83
     [Google Scholar]
  93. 93.  MacDonald WK, Hamilton D, Kuhle S 2014. SMA carrier testing: a meta-analysis of differences in test performance by ethnic group. Prenat. Diagn. 34:1219–26
     [Google Scholar]
  94. 94.  Macek M Jr., Mackova A, Hamosh A, Hilman BC, Selden RF et al. 1997. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am. J. Hum. Genet. 60:1122–27
     [Google Scholar]
  95. 95.  Makani J, Ofori-Acquah SF, Tluway F, Mulder N, Wonkam A 2017. Sickle cell disease: tipping the balance of genomic research to catalyse discoveries in Africa. Lancet 389:2355–58
     [Google Scholar]
  96. 96. MalariaGEN. 2017. MalariaGEN Genomic Epidemiology Network https://www.malariagen.net
  97. 97.  Manga N, Jenkins T, Jackson H, Whittaker DA, Lane AB 1999. The molecular basis of transferase galactosaemia in South African negroids. J. Inherit. Metab. Dis. 22:37–42
     [Google Scholar]
  98. 98.  Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M 1997. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Am. J. Hum. Genet. 61:1095–101
     [Google Scholar]
  99. 99.  Manga P, Kromberg JG, Turner A, Jenkins T, Ramsay M 2001. In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. Am. J. Hum. Genet. 68:782–87
     [Google Scholar]
  100. 100.  Margolis R, O'Hearn E, Rosenblatt A, Willour V, Holmes SE et al. 2001. A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann. Neurol. 50:373–80
     [Google Scholar]
  101. 101.  Masekela R, Zampoli M, Westwood AT, White DA, Green RJ et al. 2013. Phenotypic expression of the 3120+1G>A mutation in non-Caucasian children with cystic fibrosis in South Africa. J. Cyst. Fibros. 12:363–66
     [Google Scholar]
  102. 102.  McNeill A, Duran R, Proukakis C, Bras J, Hughes D et al. 2012. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov. Disord. 27:526–32
     [Google Scholar]
  103. 103.  Mehta A, Tolar J 2017. Fanconi anemia. GeneReviews MP Adam, HH Ardinger, RA Pagon, SE Wallace Seattle: Univ. Wash https://www.ncbi.nlm.nih.gov/books/NBK1401
    [Google Scholar]
  104. 104.  Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV et al. 1996. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat. Genet. 13:95–97
     [Google Scholar]
  105. 105.  Meme JS, Greipenberg U, Kahkonen M 1980. Fanconi's anaemia; chromosome breakage in a large African family. Hereditas 93:255–60
     [Google Scholar]
  106. 106.  Mockenhaupt FP, Ehrhardt S, Gellert S, Otchwemah RN, Dietz E et al. 2004. α+-thalassemia protects African children from severe malaria. Blood 104:2003–6
     [Google Scholar]
  107. 107.  Modi G, Modi M, Martinus I, Rodda J, Saffer D 2000. The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA 7) in three Black South African families. Acta Neurol. Scand. 101:177–82
     [Google Scholar]
  108. 108.  Monckton DG, Caskey CT 1995. Unstable triplet repeat diseases. Circulation 91:513–20
     [Google Scholar]
  109. 109.  Moore SW, Zaahl MG 2010. Chasing the ubiquitous RET proto-oncogene in South African MEN2 families—implications for the surgeon. S. Afr. J. Surg. 48:127–31
     [Google Scholar]
  110. 110.  Morar B, Lane AB 1996. The molecular characterization of Gaucher disease in South Africa. Clin. Genet. 50:78–84
     [Google Scholar]
  111. 111.  Morgan NV, Essop F, Demuth I, de Ravel T, Jansen S et al. 2005. A common Fanconi anemia mutation in black populations of sub-Saharan Africa. Blood 105:3542–44
     [Google Scholar]
  112. 112.  Mutesa L, Azad AK, Verhaeghe C, Segers K, Vanbellinghen JF et al. 2009. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. Chest 135:1233–42
     [Google Scholar]
  113. 113.  Mutesa L, Pierquin G, Segers K, Vanbellinghen JF, Gahimbare L, Bours V 2008. Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis. J. Trop. Pediatr. 54:350–52
     [Google Scholar]
  114. 114.  Nalysnyk L, Rotella P, Simeone JC, Hamed A, Weinreb N 2017. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology 22:65–73
     [Google Scholar]
  115. 115.  Ndiaye Diallo R, Gadji M, Hennig BJ, Guèye MV, Gaye A et al. 2017. Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016. Glob. Health Epidemiol. Genom. 2:e10
     [Google Scholar]
  116. 116.  Ngcungcu T, Oti M, Sitek JC, Haukanes BI, Linghu B et al. 2017. Duplicated enhancer region increases expression of CTSB and segregates with keratolytic winter erythema in South African and Norwegian families. Am. J. Hum. Genet. 100:737–50
     [Google Scholar]
  117. 117.  Oetting WS, Brilliant MH, King RA 1996. The clinical spectrum of albinism in humans. Mol. Med. Today 2:330–35
     [Google Scholar]
  118. 118.  Oetting WS, Fryer JP, Shriram S, King RA 2003. Oculocutaneous albinism type 1: the last 100 years. Pigment. Cell Res. 16:307–11
     [Google Scholar]
  119. 119.  Ogun SA, Martins S, Adebayo PB, Dawodu CO, Sequeiros J, Finkel MF 2015. Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature. Eur. J. Hum. Genet. 23:271–73
     [Google Scholar]
  120. 120.  Owen EP, Nandhlal J, Leisegang F, Van der Watt G, Nourse P, Gajjar P 2015. Common mutation causes cystinosis in the majority of black South African patients. Pediatr. Nephrol. 30:595–601
     [Google Scholar]
  121. 121.  Padoa C, Goldman A, Jenkins T, Ramsay M 1999. Cystic fibrosis carrier frequencies in populations of African origin. J. Med. Genet. 36:41–44
     [Google Scholar]
  122. 122.  Park JK, Koprivica V, Andrews DQ, Madike V, Tayebi N et al. 2001. Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease. Am. J. Med. Genet. 99:147–51
     [Google Scholar]
  123. 123.  Pastores G, Hughes D 2015. Gaucher disease. GeneReviews MP Adam, E Jones, HH Ardinger, RA Pagon, SE Wallace Seattle: Univ. Wash https://www.ncbi.nlm.nih.gov/books/NBK1269
    [Google Scholar]
  124. 124.  Peprah EK, Allen EG, Williams SM, Woodard LM, Sherman SL 2010. Genetic diversity of the fragile X syndrome gene (FMR1) in a large sub-Saharan west African population. Ann. Hum. Genet. 74:316–25
     [Google Scholar]
  125. 125.  Piel FB, Patil AP, Howes RE, Nyangiri OA, Gething PW et al. 2010. Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis. Nat. Commun. 1:104
     [Google Scholar]
  126. 126.  Piel FB, Steinberg MH, Rees DC 2017. Sickle cell disease. N. Engl. J. Med. 376:1561–73
     [Google Scholar]
  127. 127.  Piel FB, Weatherall DJ 2014. The α-thalassemias. N. Engl. J. Med. 371:1908–16
     [Google Scholar]
  128. 128.  Ramsay M 2012. Africa: continent of genome contrasts with implications for biomedical research and health. FEBS Lett 586:2813–19
     [Google Scholar]
  129. 129.  Ramsay M, Greenberg T, Lombard Z, Labrum R, Lubbe S et al. 2009. Spectrum of genetic variation at the ABCC6 locus in South Africans: pseudoxanthoma elasticum patients and healthy individuals. J. Dermatol. Sci. 54:198–204
     [Google Scholar]
  130. 130.  Ramsay M, Jenkins T 1987. Globin gene-associated restriction-fragment-length polymorphisms in southern African peoples. Am. J. Hum. Genet. 41:1132–44
     [Google Scholar]
  131. 131.  Reichardt JK, Packman S, Woo SL 1991. Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Am. J. Hum. Genet. 49:860–67
     [Google Scholar]
  132. 132.  Roberts LJ, Nossek CA, Greenberg J, Ramesar RS 2012. Stargardt macular dystrophy: common BCA4 mutations in South Africa—establishment of a rapid genetic test and relating risk to patients. Mol. Vis. 18:280–89
     [Google Scholar]
  133. 133.  Rooryck C, Roudaut C, Robine E, Musebeck J, Arveiler B 2006. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Pigment. Cell Res. 19:239–42
     [Google Scholar]
  134. 134.  Rosenberg PS, Tamary H, Alter BP 2011. How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi anemia in the United States and Israel. Am. J. Med. Genet. A 155A:1877–83
     [Google Scholar]
  135. 135.  Rosendorff J, Bernstein R, Macdougall L, Jenkins T 1987. Fanconi anemia: another disease of unusually high prevalence in the Afrikaans population of South Africa. Am. J. Med. Genet. 27:793–97
     [Google Scholar]
  136. 136.  Rowe SM, Daines C, Ringshausen FC, Kerem E, Wilson J et al. 2017. Tezacaftor-ivacaftor in residual-function heterozygotes with cystic fibrosis. N. Engl. J. Med. 377:2024–35
     [Google Scholar]
  137. 137.  Ruano L, Melo C, Silva MC, Coutinho P 2014. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 42:174–83
     [Google Scholar]
  138. 138.  Rubinsztein DC, Coetzee GA, Marais AD, Leitersdorf E, Seftel HC, van der Westhuyzen DR 1992. Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. J. Lipid Res. 33:1647–55
     [Google Scholar]
  139. 139.  Rudman JR, Kabahuma RI, Bressler SE, Feng Y, Blanton SH et al. 2017. The genetic basis of deafness in populations of African descent. J. Genet. Genom. 44:285–94
     [Google Scholar]
  140. 140.  Schwartz M, Christensen E, Superti-Furga A, Brandt NJ 1998. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. Hum. Genet. 102:452–58
     [Google Scholar]
  141. 141.  Seftel HC, Baker SG, Jenkins T, Mendelsohn D 1989. Prevalence of familial hypercholesterolemia in Johannesburg Jews. Am. J. Med. Genet. 34:545–47
     [Google Scholar]
  142. 142.  September AV, Vorster AA, Ramesar RS, Greenberg LJ 2004. Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease. Investig. Ophthalmol. Vis. Sci. 45:1705–11
     [Google Scholar]
  143. 143.  Silber E, Kromberg JG, Temlett JA, Krause A, Saffer D 1998. Huntington's disease confirmed by genetic testing in five African families. Mov. Disord. 13:726–30
     [Google Scholar]
  144. 144.  Slatkin M 2004. A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. Am. J. Hum. Genet. 75:282–93
     [Google Scholar]
  145. 145.  Smith DC, Atadzhanov M, Mwaba M, Greenberg LJ 2015. Evidence for a common founder effect amongst South African and Zambian individuals with Spinocerebellar ataxia type 7. J. Neurol. Sci. 354:75–78
     [Google Scholar]
  146. 146.  Smith DC, Bryer A, Watson LM, Greenberg LJ 2012. Inherited polyglutamine spinocerebellar ataxias in South Africa. S. Afr. Med. J. 102:683–86
     [Google Scholar]
  147. 147.  Smith DC, Greenberg LJ, Bryer A 2016. The hereditary ataxias: Where are we now? Four decades of local research. S. Afr. Med. J. 106:S38–41
     [Google Scholar]
  148. 148.  Spritz RA, Fukai K, Holmes SA, Luande J 1995. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am. J. Hum. Genet. 56:1320–23
     [Google Scholar]
  149. 149.  Stevens G, Ramsay M, Jenkins T 1997. Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. Hum. Genet. 99:523–27
     [Google Scholar]
  150. 150.  Stevens G, van Beukering J, Jenkins T, Ramsay M 1995. An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. Am. J. Hum. Genet. 56:586–91
     [Google Scholar]
  151. 151.  Stevens G, Yawitch T, Rodda J, Verhaart S, Krause A 1999. Different molecular basis for spinal muscular atrophy in South African black patients. Am. J. Med. Genet. 86:420–26
     [Google Scholar]
  152. 152.  Steyn K, Goldberg YP, Kotze MJ, Steyn M, Swanepoel AS et al. 1996. Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations. Hum. Genet. 98:479–84
     [Google Scholar]
  153. 153.  Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME et al. 2003. Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?. Mol. Genet. Metab. 79:104–9
     [Google Scholar]
  154. 154.  Taylor-Cousar JL, Munck A, McKone EF, van der Ent CK, Moeller A et al. 2017. Tezacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del. N. Engl. J. Med. 377:2013–23
     [Google Scholar]
  155. 155.  Theadom A, Rodrigues M, Roxburgh R, Balalla S, Higgins C et al. 2014. Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology 43:259–68
     [Google Scholar]
  156. 156.  Tipping AJ, Pearson T, Morgan NV, Gibson RA, Kuyt LP et al. 2001. Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. PNAS 98:5734–39
     [Google Scholar]
  157. 157.  Tishkoff SA, Goldman A, Calafell F, Speed WC, Deinard AS et al. 1998. A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. Am. J. Hum. Genet. 62:1389–402
     [Google Scholar]
  158. 158.  Torrington M, Viljoen DL 1991. Founder effect in 20 Afrikaner kindreds with pseudoxanthoma elasticum. S. Afr. Med. J. 79:7–11
     [Google Scholar]
  159. 159.  Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G et al. 2000. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res 10:165–73
     [Google Scholar]
  160. 160.  Town M, Jean G, Cherqui S, Attard M, Forestier L et al. 1998. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat. Genet. 18:319–24
     [Google Scholar]
  161. 161.  Traore M, Coulibaly T, Meilleur KG, La Pean A, Sangare M et al. 2011. Clinical and genetic analysis of spinocerebellar ataxia in Mali. Eur. J. Neurol. 18:1269–71
     [Google Scholar]
  162. 162.  Tshilolo L, Aissi LM, Lukusa D, Kinsiama C, Wembonyama S et al. 2009. Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31 204 newborns. J. Clin. Pathol. 62:35–38
     [Google Scholar]
  163. 163. UN Dep. Econ. Soc. Affairs. 2017. World population prospects: the 2017 revision Rep., UN, New York. https://www.un.org/development/desa/publications/world-population-prospects-the-2017-revision.html
  164. 164. Univ. Calif. San Francisco. 2016. Precision Public Health Summit: summit report, June 6–7, 2016 Rep Univ. Calif San Francisco: https://cvp.ucsf.edu/PPHS-Summit-Report-For-Posting.pdf
  165. 165.  van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER et al. 2002. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 58:702–8
     [Google Scholar]
  166. 166.  van der Merwe NC, Hamel N, Schneider SR, Apffelstaedt JP, Wijnen JT, Foulkes WD 2012. A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa. Clin. Genet. 81:179–84
     [Google Scholar]
  167. 167.  van der Watt G, Owen EP, Berman P, Meldau S, Watermeyer N et al. 2010. Glutaric aciduria type 1 in South Africa—high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans. Mol. Genet. Metab. 101:178–82
     [Google Scholar]
  168. 168.  Van Hougenhouck-Tulleken W, Chan I, Hamada T, Thornton H, Jenkins T et al. 2004. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br. J. Dermatol. 151:413–23
     [Google Scholar]
  169. 169.  Venter PA, Gericke GS, Dawson B, Op't Hof J 1981. A marker X chromosome associated with nonspecific male mental retardation. The first South African cases. S. Afr. Med. J. 60:807–11
     [Google Scholar]
  170. 170.  Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S et al. 2017. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy – a literature review. Orphanet J. Rare Dis. 12:124
     [Google Scholar]
  171. 171.  Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA et al. 1994. Mutation analysis of the Fanconi anemia gene FACC. Am. J. Hum. . Genet 54:595–601
     [Google Scholar]
  172. 172.  Vilageliu L, Grinberg D 2017. Involvement of Gaucher disease mutations in Parkinson disease. Curr. Protein Pept. Sci. 18:758–64
     [Google Scholar]
  173. 173.  Vorster A, Beighton P, Chetty M, Ganie Y, Henderson B et al. 2017. Osteogenesis imperfecta type 3 in South Africa: causative mutations in FKBP10. S. Afr. Med. J. 107:457–62
     [Google Scholar]
  174. 174.  Vorster E 2017. Determining the molecular basis of spinal muscular atrophy in black South African patients PhD Thesis, Univ. Witwatersrand, Johannesburg, S. Afr.
  175. 175.  Wainstein T, Kerr R, Mitchell CL, Madaree S, Essop FB et al. 2013. Fanconi anaemia in black South African patients heterozygous for the FANCG c.637-643delTACCGCC founder mutation. S. Afr. Med. J. 103:970–73
     [Google Scholar]
  176. 176.  Wonkam A 2015. Letter to the editor regarding “GJB2, GJB6 or GJA1 genes should not be investigated in routine in non syndromic deafness in people of sub-Saharan African descent. .” Int. J. Pediatr. Otorhinolaryngol. 79:632–33
     [Google Scholar]
  177. 177.  Worku DK 2014. Concurrence of myotonic dystrophy and epilepsy: a case report. J. Med. Case Rep. 8:427
     [Google Scholar]
  178. 178. World Health Organ. (WHO). 2010. Sixty-Third World Health Assembly, Geneva, 2010: resolutions and decisions, annexes Doc. WHA63/2010/REC/1 WHO Geneva:
  179. 179.  Yamada M, Sakai K, Hayashi M, Hozumi Y, Abe Y et al. 2011. Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene. J. Dermatol. Sci. 64:217–22
     [Google Scholar]
  180. 180.  Zhang KH, Li Z, Lei J, Pang T, Xu B et al. 2011. Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. Cell Biochem. Biophys. 61:523–29
     [Google Scholar]
/content/journals/10.1146/annurev-genom-083117-021256
Loading
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations
Annual Review of Genomics and Human Genetics 19, 149 (2018); https://doi.org/10.1146/annurev-genom-083117-021256
/content/journals/10.1146/annurev-genom-083117-021256
/content/journals/10.1146/annurev-genom-083117-021256
Loading

Data & Media loading...

  • Article Type: Review Article

Most Cited Most Cited RSS feed

This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error