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Article

Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract.

Ophthalmic genetics - 1 Oct 2022

Jabbarpour Neda, Saei Hassan, Jabbarpoor Bonyadi Mohammad Hossein, Bonyadi Mortaza

Abstract excerpt

BACKGROUND: Cataract is mainly due to the presence of high molecular weight protein, which disrupts the normal function of the lens. Pathogenic variants in Gap Junction protein alpha-8 (GJA8) have been associated with autosomal dominant congenital nuclear cataract. In general, mutations in those genes that have important functions in lens development lead to congenital cataract. METHODS: We conducted whole-exome...

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PMID: 35726576
DOI: 10.1080/13816810.2022.2089363

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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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