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Article

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.

Human molecular genetics - 1 May 1997

Litt M, Carrero-Valenzuela R, LaMorticella D M, Schultz D W, Mitchell T N, Kramer P, Maumenee I H

Abstract excerpt

Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. Cerulean cataracts have peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the...

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Identifiers

PMID: 9158139
DOI: 10.1093/hmg/6.5.665

Genes

CRYBB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.PMID 9158139Read ↗

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

Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cellsSemantic proximity Read ↗

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.Semantic proximity Read ↗

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Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts.Semantic proximity Read ↗

A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataractSemantic proximity Read ↗

Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract.Semantic proximity Read ↗

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A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.Semantic proximity Read ↗

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