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Eur J Med Genet. 2010 Nov-Dec;53(6):347-57. doi: 10.1016/j.ejmg.2010.07.001. Epub 2010 Sep 17.

Molecular characteristics of inherited congenital cataracts.

Author information

1
Medical Genetics Laboratory, Department of Obstetrics and Gynecology, Second Teaching Hospital, Jilin University, 218 Zhiqiang, Changchun, 130041, China. ccc0431@163.com

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.

PMID:
20624502
DOI:
10.1016/j.ejmg.2010.07.001
[Indexed for MEDLINE]

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