Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.

PloS one - 1 Jan 2017

Yao Yihua, Zheng Xuedong, Ge Xianglian, Xiu Yanghui, Zhang Liu, Fang Weifang, Zhao Junzhao, Gu Feng, Zhu Yihua

Abstract excerpt

Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous ocular disease in children that results in serious visual impairments or even blindness. Targeted exome sequencing (TES) is an efficient method used for genetic diagnoses of inherited diseases. In the present study, we used a custom-made TES panel to identify the genetic defect of a four-generation Chinese family with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cataract
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Epithelial Cells

Share to HEK293 Cells

Share to Microscopy, Fluorescence

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 28877251
DOI: 10.1371/journal.pone.0184440
PMCID: PMC5587237

Genes

GJA3
TES

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.PMID 28877251Read ↗

Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.Semantic proximity Read ↗

Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.Semantic proximity Read ↗

A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract.Semantic proximity Read ↗

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

Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.Semantic proximity Read ↗

Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.Semantic proximity Read ↗

Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.Semantic proximity Read ↗

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.Semantic proximity Read ↗

Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.Semantic proximity Read ↗

A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.Semantic proximity Read ↗

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Semantic proximity Read ↗

A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.