Mutational Screening of Six Genes in Chinese Patients with Congenital Cataract and Microcornea

Overview

Journal Mol Vis

Specialties Cell Biology
Molecular Biology
Ophthalmology

Date 2011 Jun 21

PMID 21686328

Citations 19

Authors

Wenmin Sun

Xueshan Xiao

Shiqiang Li

Xiangming Guo

Qingjiong Zhang

Affiliations

Soon will be listed here.

Abstract

Purpose: To identify mutations in 6 genes of 9 Chinese families with congenital cataract and microcornea.

Methods: Nine unrelated families with congenital cataract and microcornea were collected. Cycle sequencing was used to detect variants in the coding and adjacent regions of the crystallin alpha A (CRYAA), crystallin beta B1 (CRYBB1), crystallin beta A4 (CRYBA4), crystallin gamma C (CRYGC), crystallin gamma D (CRYGD), and gap junction protein alpha 8 (GJA8) genes.

Results: Upon complete analysis of the 6 genes, three mutations in 2 genes were detected in 3 families, respectively. These mutations were not present in 96 normal controls. Of the three mutations, two novel heterozygous mutations in GJA8, c.136G>A (p.Gly46Arg) and c.116C>G (p.Thr39Arg), were found in two families with congenital cataract and microcornea. The rest one, a heterozygous c.34C>T (p.Arg12Cys) mutation in CRYAA, was identified in three patients from a family with nuclear cataract, microcornea with axial elongation. No mutation in the 6 genes was detected in the remaining 6 families.

Conclusions: Mutations in GJA8 and CRYAA were identified in three families with cataract and microcornea. Elongation of axial length accompanied with myopia was a novel phenotype in the family with the c.34C>T mutation in CRYAA. Our results expand the spectrum of GJA8 mutations as well as their associated phenotypes.

Citing Articles

Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.

Dong S, Zou T, Zhen F, Wang T, Zhou Y, Wu J Eur J Hum Genet. 2023; 32(4):413-420.

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Identification of a Missense Mutation in Gene in an Iranian Family with Autosomal Dominant Congenital Cataract.

Asghari M, Abedini S, Farshidianfar M, Tajbakhsh A, Derakhshan A, Pasdar A J Curr Ophthalmol. 2023; 35(1):73-78.

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Mutation screening in autosomal dominant congenital cataract families from North India.

Goyal S, Singh R, Singh J, Vanita V Mol Genet Genomics. 2023; 298(6):1279-1288.

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Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.

Jin A, Zhao Q, Liu S, Jin Z, Li S, Xiang M Front Cell Dev Biol. 2022; 10:794837.

PMID: 35531093 PMC: 9068895. DOI: 10.3389/fcell.2022.794837.

Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant.

Tong J, Khan U, Haddad B, Minogue P, Beyer E, Berthoud V Biophys J. 2021; 120(24):5644-5656.

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