Molecular characteristics of inherited congenital cataracts

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...

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Bibliographic Details
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
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Description
Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2010.07.001