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Annual Review of Genomics and Human Genetics

Volume 16, 2015

The Genetics of Soft Connective Tissue Disorders

Abstract

Over the last few years, the field of hereditary connective tissue disorders has changed tremendously. This review highlights exciting insights into three prototypic disorders affecting the soft connective tissue: Ehlers-Danlos syndrome, pseudoxanthoma elasticum, and cutis laxa. For each of these disorders, the identification and characterization of several novel but related conditions or subtypes have widened the phenotypic spectrum. In parallel, the vast underlying molecular network connecting these phenotypes is progressively being uncovered. Identification and characterization (both clinical and molecular) of new phenotypes within the connective tissue disorder spectrum are often key to further unraveling the pathways involved in connective tissue biology and delineating the clinical spectrum and pathophysiology of the disorders. Although difficult challenges remain, recent findings have expanded our pathophysiological understanding and may lead to targeted therapies in the near future.

Keyword(s): cutis laxa, Ehlers-Danlos syndrome, gene discovery, next-generation sequencing, pseudoxanthoma elasticum
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/content/journals/10.1146/annurev-genom-090314-050039
2015-08-24
2024-04-16
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The Genetics of Soft Connective Tissue Disorders
Annual Review of Genomics and Human Genetics 16, 229 (2015); https://doi.org/10.1146/annurev-genom-090314-050039
/content/journals/10.1146/annurev-genom-090314-050039
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