Molecular characteristics of inherited congenital cataracts.
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.
Huang
Bingyu
B
Medical Genetics Laboratory, Department of Obstetrics and Gynecology, Second Teaching Hospital, Jilin University, 218 Zhiqiang, Changchun, 130041, China. ccc0431@163.com
He
Weigong
W
D000818:Animals; D020346:Aquaporins / Q000235:genetics / Q000378:metabolism; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002648:Child; D017630:Connexins / Q000235:genetics* / Q000378:metabolism; D003459:Crystallins / Q000235:genetics*; D003599:Cytoskeleton / Q000235:genetics* / Q000378:metabolism; D005136:Eye Proteins / Q000235:genetics / Q000378:metabolism; D018398:Homeodomain Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics / Q000378:metabolism; D007908:Lens, Crystalline / Q000502:physiology; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics / Q000378:metabolism; D012097:Repressor Proteins / Q000235:genetics / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D014746:Vimentin / Q000235:genetics / Q000378:metabolism
D020346:Aquaporins; D017630:Connexins; D003459:Crystallins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D007381:Intermediate Filament Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; C000605732:Pax6 protein, mouse; D012097:Repressor Proteins; D014157:Transcription Factors; D014746:Vimentin; C030328:aquaporin 0; C433629:homeobox protein PITX3; C084808:phakinin