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Article

A novel deletion variant of gammaD-crystallin responsible for congenital nuclear cataract.

Molecular vision - 7 Nov 2007

Zhang Li-Yun, Yam Gary Hin-Fai, Fan Dorothy Shu-Ping, Tam Pancy Oi-Sin, Lam Dennis Shun-Chiu, Pang Chi-Pui

Abstract excerpt

PURPOSE: To investigate a novel deletion variant of gammaD-crystallin (CRYGD) identified in a Chinese family with nuclear congenital cataract. METHODS: A Chinese family with five affected members diagnosed with nuclear cataract and four unaffected members were recruited for the mutational screening of 15 known candidate genes for autosomal dominant congenital cataract. Two-point linkage analysis with single...

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Identifiers

PMID: 18079686

Genes

CRYGD

Provenance

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