title: Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.
abstract: The congenital cataract has been a clinically important cause of impaired vision development, making up about 10% of the cases of childhood blindness. Mutations of more than 40 genes have been identified causing congenital cataract with Mendelian inheritance, which indicated that it has an extremely high genetic heterogeneity. In this study, we recruited a large congenital cataract family and identified a missense mutation (c.143A>G: p.E48G) within gap junction protein alpha-3 (GJA3) gene in the proband using whole exome sequencing. Subsequent Sanger sequencing of this mutation in all family members revealed that this mutation cosegregated with the phenotype in the family with full penetrance. Our study identified a mutation in GJA3 that correlated with congenital cataract phenotype, which was not reported previously, and would be of benefit to the diagnosis of this genetic disorder. This finding expands the mutation spectrum of GJA3 and provides useful information for further study of the molecular pathogenesis of congenital cataract.
authors.affiliation: 1 State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University , Changsha, China .
authors.forename: Bin
authors.initials: B
authors.lastname: Li
authors.affiliation: 2 The First Affiliated Hospital of Zhengzhou University , Zhengzhou, China .
authors.forename: Yuying
authors.initials: Y
authors.lastname: Liu
authors.affiliation: 1 State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University , Changsha, China .
authors.forename: Yaning
authors.initials: Y
authors.lastname: Liu
authors.affiliation: 1 State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University , Changsha, China .
authors.forename: Hui
authors.initials: H
authors.lastname: Guo
authors.affiliation: 1 State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University , Changsha, China .
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
authors.affiliation: 1 State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University , Changsha, China .|3 College of Life Science and Technology, Xinjiang University , Urumqi, China .|4 Key Laboratory of Medical Information Research, Central South University , Changsha, China .
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.affiliation: 2 The First Affiliated Hospital of Zhengzhou University , Zhengzhou, China .
authors.forename: Xuemin
authors.initials: X
authors.lastname: Jin
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002386:Cataract / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D059472:Exome; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
chemical_list: D017630:Connexins; C082917:GJA3 protein, human