Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract

Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal rec...

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Bibliographic Details
Published in:	Genetics and molecular research Vol. 15; no. 3
Main Authors:	Zhang, D D, Du, J Z, Topolewski, J, Wang, X M
Format:	Journal Article
Language:	English
Published:	Brazil 29-07-2016
Subjects:	Cataract - genetics DNA Mutational Analysis Genes, X-Linked Genetic Association Studies Genetic Diseases, X-Linked - genetics Genetic Loci Genetic Predisposition to Disease Humans Mutation
Online Access:	Get full text
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Summary:	Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the X or Y chromosome. Congenital cataract is a symptom associated with several X-linked disorders, including Nance-Horan syndrome, Lowe syndrome, Conradi-Hünermann-Happle syndrome, oculo-facio-cardio-dental syndrome, and Alport syndrome. On the other hand, the mechanism and characteristics of Y-linked congenital cataract remains to be identified. Despite its rarity, sex-linked congenital cataract has been known to seriously affect the quality of life of patients. In this review, we present our current understanding of the genes and loci associated with sex-linked congenital cataract. This could help identify novel approaches for the prevention, early diagnosis, and comprehensive disease treatment.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1
ISSN:	1676-5680 1676-5680
DOI:	10.4238/gmr.15038600