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Identification of GJA3 p.S50P Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract and Its Underlying Pathogenesis.

DNA and cell biology - 1 Oct 2020

Li Haibo, Jiang Haibo, Rong Rong, Jiang Jian, Ji Dan, Song Weitao, Xia Xiaobo

Abstract excerpt

Congenital cataract refers to a lens opacity caused by multiple etiological factors, including genetic mutation, abnormal metabolism of the lens, and infection. Currently, there are >100 known disease-causing genes as well as 60 known mutations in the Cx46 gene (Gap junction alpha-3, GJA3) associated with congenital cataracts. Dysfunction of gap junctions impairs homeostasis in lens cells, thereby inducing...

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PMID: 32808810
DOI: 10.1089/dna.2020.5605

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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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