title: Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.
abstract: 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.
authors.affiliation: Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Science and Sichuan Provincial People's Hospital, Sichuan, China zhangdd25@126.com.
authors.forename: D D
authors.initials: DD
authors.lastname: Zhang
authors.affiliation: Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Science and Sichuan Provincial People's Hospital, Sichuan, China.
authors.forename: J Z
authors.initials: JZ
authors.lastname: Du
authors.affiliation: Department of Infectious Diseases, University of Georgia, Athens, GA, USA.
authors.forename: J
authors.initials: J
authors.lastname: Topolewski
authors.affiliation: Sichuan-Hong Kong Rehabilitation Center, Sichuan Academy of Medical Science and Sichuan Provincial People's Hospital, Sichuan, China.
authors.forename: X M
authors.initials: XM
authors.lastname: Wang
mesh_terms: D002386:Cataract / Q000235:genetics*; D004252:DNA Mutational Analysis; D050172:Genes, X-Linked; D056726:Genetic Association Studies; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation