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Article

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

European journal of human genetics : EJHG - 1 Jun 2017

Siggs Owen M, Javadiyan Shari, Sharma Shiwani, Souzeau Emmanuelle, Lower Karen M, Taranath Deepa A, Black Jo, Pater John, Willoughby John G, Burdon Kathryn P, Craig Jamie E

Abstract excerpt

Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in one of several crystallin genes that produce the bulk of structural proteins in the lens. Here we describe a pedigree with autosomal dominant isolated congenital cataract and linkage to the crystallin gene cluster on chromosome 22. No rare single nucleotide variants or short indels were identified by exome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Chromosomes, Human, Pair 22

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Share to Eye Diseases, Hereditary

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Source

Open in PubMed Open full text

Identifiers

PMID: 28272538
DOI: 10.1038/ejhg.2017.33
PMCID: PMC5477362

Genes

CRYBB1
CRYBA4

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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Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.PMID 28272538Read ↗

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