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Article

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.

Molecular vision - 1 Jan 2013

Kondo Yukiko, Saitsu Hirotomo, Miyamoto Toshinobu, Lee Byung Joo, Nishiyama Kiyomi, Nakashima Mitsuko, Tsurusaki Yoshinori, Doi Hiroshi, Miyake Noriko, Kim Jeong Hun, Yu Young Suk, Matsumoto Naomichi

Abstract excerpt

PURPOSE: Congenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one quarter to one third of congenital cataract cases may have a genetic cause. However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In this study, we used whole-exome sequencing (WES) to identify pathogenic mutations in two Korean families with...

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Identifiers

PMID: 23441109
PMCID: PMC3580970

Genes

CRYAA
CRYGC

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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