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Article

A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.

Molecular vision - 1 Jan 2012

Guo Yuanyuan, Su Dongmei, Li Qian, Yang Zhenfei, Ma Zicheng, Ma Xu, Zhu Siquan

Abstract excerpt

PURPOSE: To report the identification of a nonsense mutation in γC-crystallin (CRYGC) associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese family. METHODS: We investigated four generations of a Chinese family six of whose members were affected by nuclear cataracts and microcornea. The genomic DNA was extracted from peripheral blood leukocytes. All reported nuclear...

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Source

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Identifiers

PMID: 22876111
PMCID: PMC3413427

Genes

CRYGC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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