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Article

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

Molecular vision - 9 Feb 2008

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

Abstract excerpt

PURPOSE: To identify the underlying genetic defect in a three-generation family with five members affected with dominant bilateral congenital cataract and microcornea. METHODS: Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, CRYAA, CRYBB1, MAF, GJA3, and GJA8, was performed by bidirectional sequencing of the amplified products. RESULTS: Affected individuals had...

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Source

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Identifiers

PMID: 18334946
PMCID: PMC2255026

Genes

GJA8
GJA3
CRYAA
CRYBB1
MAF

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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