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Article

Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.

Molecular vision - 13 Jan 2011

Yao Ke, Li Jinyu, Jin Chongfei, Wang Wei, Zhu Yanan, Shentu Xingchao, Wang Qiwei

Abstract excerpt

PURPOSE: To identify the underlying genetic defect in four generations of a Chinese family affected with bilateral congenital posterior subcapsular cataracts. METHODS: Clinical data from patients in the family were recorded by slit-lamp photography. Genomic DNA samples were extracted from peripheral blood of the pedigree members. Mutation screening was performed in the candidate gene by bidirectional sequencing...

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Source

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Identifiers

PMID: 21245961
PMCID: PMC3021577

Genes

CRYBB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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