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Article

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Human genetics - 1 Jul 2013

Reis Linda M, Tyler Rebecca C, Muheisen Sanaa, Raggio Victor, Salviati Leonardo, Han Dennis P, Costakos Deborah, Yonath Hagith, Hall Sarah, Power Patricia, Semina Elena V

Abstract excerpt

Pediatric cataracts are observed in 1-15 per 10,000 births with 10-25 % of cases attributed to genetic causes; autosomal dominant inheritance is the most commonly observed pattern. Since the specific cataract phenotype is not sufficient to predict which gene is mutated, whole exome sequencing (WES) was utilized to concurrently screen all known cataract genes and to examine novel candidate factors for a...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genes, Dominant

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Source

Open in PubMed Open full text

Identifiers

PMID: 23508780
DOI: 10.1007/s00439-013-1289-0
PMCID: PMC3683360

Genes

CRYBA2
CRYBB3
CRYAA
CRYBB1
CRYGC
CRYGD
EYA1
GJA8
MIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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