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Article

Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.

Molecular vision - 1 Jan 2012

Weisschuh Nicole, Aisenbrey Sabine, Wissinger Bernd, Riess Angelika

Abstract excerpt

PURPOSE: To identify the genetic defect in a four-generation Croatian family presenting with autosomal dominant cataract. METHODS: Genome-wide linkage analysis with 250K single nucleotide polymorphism (SNP) arrays was performed using DNA from one unaffected and seven affected individuals. Mutation screening of candidate genes was performed by bidirectional Sanger sequencing. RESULTS: Evidence for linkage was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22312185
PMCID: PMC3272051

Genes

CRYBB2
CRYBA4
CRYBB1
CRYBB3

Variants

Provenance

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.

Related research

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Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.PMID 22312185Read ↗

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Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin.Semantic proximity Read ↗

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