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Article

A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

Molecular vision - 17 Jun 2008

Vanita Vanita, Singh Jai Rup, Singh Daljit, Varon Raymonda, Sperling Karl

Abstract excerpt

PURPOSE: To detect the underlying genetic defect in a family with three members in two generations affected with bilateral congenital cataract. METHODS: Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, alphaA-crystallin (CRYAA), betaA1-crystallin (CRYBA1), betaB2-crystallin (CRYBB2), gammaA-gammaD-crystallins (CRYGA, CRYGB, CRYGC, and CRYGD), connexin-46 (GJA3),...

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Source

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Identifiers

PMID: 18587493
PMCID: PMC2435161

Genes

GJA8
CRYAA
CRYBA1
CRYBB2
CRYGA
CRYGB
CRYGC
CRYGD
GJA3

Variants

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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