Genetics of congenital cataract

A. Shiels; J. F. Hejtmancik

doi:10.1016/B978-0-12-374203-2.00037-3

Genetics of congenital cataract

A. Shiels, J. F. Hejtmancik

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

1 Scopus citations

Abstract

Inherited cataracts make up a substantial fraction of the cataracts present at birth. Most inherited congenital cataracts are accounted for by mutation in genes encoding abundant cytoplasmic or membrane proteins of lens fiber cells. The remaining inherited congenital cataracts are due to mutations in a large and growing number of genes. Identification of these genes is providing insight into the processes required for normal lens development and suggesting candidates for genes that may contribute to inherited cataracts later in life.

Original language	English
Title of host publication	Encyclopedia of the Eye
Publisher	Elsevier
Pages	211-216
Number of pages	6
ISBN (Electronic)	9780123742032
ISBN (Print)	9780123741981
DOIs	https://doi.org/10.1016/B978-0-12-374203-2.00037-3
State	Published - Jan 1 2010

Keywords

Aquaporin 0
Beaded filament structural proteins
Cataract
Childhood
Congenital
Connexin
Crystallin
Heat-shock factor 4
Juvenile
Lens

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10.1016/B978-0-12-374203-2.00037-3

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AB - Inherited cataracts make up a substantial fraction of the cataracts present at birth. Most inherited congenital cataracts are accounted for by mutation in genes encoding abundant cytoplasmic or membrane proteins of lens fiber cells. The remaining inherited congenital cataracts are due to mutations in a large and growing number of genes. Identification of these genes is providing insight into the processes required for normal lens development and suggesting candidates for genes that may contribute to inherited cataracts later in life.

KW - Aquaporin 0

KW - Beaded filament structural proteins

KW - Cataract

KW - Childhood

KW - Congenital

KW - Connexin

KW - Crystallin

KW - Heat-shock factor 4

KW - Juvenile

KW - Lens

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M3 - Chapter

AN - SCOPUS:84880143117

SN - 9780123741981

SP - 211

EP - 216

BT - Encyclopedia of the Eye

PB - Elsevier

ER -

Genetics of congenital cataract

Abstract

Keywords

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