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Article

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

European journal of human genetics : EJHG - 1 Dec 2013

Berry Vanita, Gregory-Evans Cheryl, Emmett Warren, Waseem Naushin, Raby Jacob, Prescott DeQuincy, Moore Anthony T, Bhattacharya Shomi S

Abstract excerpt

Congenital cataracts are an important cause of bilateral visual impairment in infants. Through genome-wide linkage analysis in a four-generation family of Irish descent, the disease-associated gene causing autosomal-dominant congenital nuclear cataract was mapped to chromosome 4p16.1. The maximum logarithm of odds (LOD) score was 2.62 at a recombination fraction θ=0, obtained for marker D4S432 physically close to...

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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: 23531866
DOI: 10.1038/ejhg.2013.52
PMCID: PMC3831071

Genes

WFS1

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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