Molecular characteristics of inherited congenital cataracts

• Published in: European journal of medical genetics 2010-11, Vol.53 (6), p.347-357
• Main Authors: Huang, Bingyu, He, Weigong
• Format: Article
• Language: English
• Subjects: Animals; Aquaporins - genetics; Aquaporins - metabolism; Beaded filament structural protein 2 (BFSP2); Cataract - congenital; Cataract - genetics; Child; Congenital inherited cataracts; Connexins; Connexins - genetics; Connexins - metabolism; Crystallins; Crystallins - genetics; Cytoskeleton - genetics; Cytoskeleton - metabolism; Eye Proteins - genetics; Eye Proteins - metabolism; Homeodomain Proteins - genetics; Homeodomain Proteins - metabolism; Humans; Intermediate Filament Proteins - genetics; Intermediate Filament Proteins - metabolism; Lens intrinsic membrane protein (LIM); Lens, Crystalline - physiology; Major intrinsic protein (MIP); Medical Education; Mice; Mice, Knockout; Mutation; Paired Box Transcription Factors - genetics; Paired Box Transcription Factors - metabolism; PAX6; PAX6 Transcription Factor; PITX3; Repressor Proteins - genetics; Repressor Proteins - metabolism; Transcription Factors - genetics; Transcription Factors - metabolism; Vimentin; Vimentin - genetics; Vimentin - metabolism
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2010.07.001

Abstract Congenital cataracts are a major cause of induced blindness in children, and inherited cataracts are the major cause of congenital cataracts. Inherited congenital cataracts have been associated with mutations in specific genes, including those of crystallins, gap junction proteins, membrane transport and channel proteins, the cytoskeleton, and growth and transcription factors. Locating and identifying the genes and mutations involved in cataractogenesis are essential to gaining an understanding of the molecular defects and pathophysiologic characteristics of inherited congenital cataracts. In this review, we summarize the current research in this field.