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Article

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.

Chinese medical journal - 5 Apr 2016

Min Han-Yi, Qiao Peng-Peng, Yan Zhi-Hui, Jiang Hui-Feng, Zhu Ya-Ping, Du Hui-Qian, Li Qin, Wang Jia-Wei, Zhang Jie, Sun Jun, Yi Xin, Yang Ling

Abstract excerpt

BACKGROUND: Congenital cataract (CC) is the leading cause of visual impairment or blindness in children worldwide. Because of highly genetic and clinical heterogeneity, a molecular diagnosis of the lens disease remains a challenge. METHODS: In this study, we tested a three-generation Chinese family with autosomal dominant CCs by targeted sequencing of 45 CC genes on next generation sequencing and evaluated the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26996484
DOI: 10.4103/0366-6999.178966
PMCID: PMC4819309

Genes

GJA8

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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