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Article

Identification and functional analysis of two GJA8 variants in Chinese families with eye anomalies.

Molecular genetics and genomics : MGG - 1 Nov 2022

Zhou Linlin, Sun Xuejiao, Wang Xinyao, Liu Kangyu, Zhong Zilin, Chen Jianjun

Abstract excerpt

In this study, we report on two different GJA8 variants related to congenital eye anomalies in two unrelated families, respectively. GJA8 (or Cx50) encoding a transmembrane protein to form lens connexons has been known as a common causative gene in congenital cataracts and its variants have recently been reported related to a wide phenotypic spectrum of eye defects. We identified two GJA8 variants, c.134G>T...

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PMID: 35980487
DOI: 10.1007/s00438-022-01939-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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