A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.

A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.

To examine the mechanism by which a novel connexin 50 (Cx50) mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts.Family history and clinical data were recorded and direct gene sequencing was used to identify the disease-causing mutation. The...

Full description

Bibliographic Details
Main Authors:	Yanan Zhu, Hao Yu, Wei Wang, Xiaohua Gong, Ke Yao
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2014-01-01
Series:	PLoS ONE
Online Access:	http://europepmc.org/articles/PMC4269439?pdf=render

Similar Items

Correction: A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract.
by: Yanan Zhu, et al.
Published: (2015-01-01)

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families
by: Shazia Micheal, et al.
Published: (2018-02-01)

Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract
by: Li Wang, et al.
Published: (2016-01-01)

Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.
by: Dongmei Su, et al.
Published: (2013-01-01)

Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.
by: Chun-Hong Xia, et al.
Published: (2012-01-01)

A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts
by: Feng-Tao Dang, et al.
Published: (2016-11-01)

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts
by: Han-Yi Min, et al.
Published: (2016-01-01)

A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family
by: Yu Zhou, et al.
Published: (2016-01-01)

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.
by: Ying Hu, et al.
Published: (2013-01-01)

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing
by: Shan Li, et al.
Published: (2019-12-01)

Genetic analysis of a Chinese family with autosomal dominant congenital cataract
by: Han Wang, et al.
Published: (2013-08-01)

Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.
by: Yihua Yao, et al.
Published: (2017-01-01)

Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies.
by: Hyun-Seok Jin, et al.
Published: (2017-01-01)

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
by: Bushra Irum, et al.
Published: (2016-01-01)

Missense mutations in <it>ITPR1</it> cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
by: Huang Lijia, et al.
Published: (2012-09-01)

Correction: Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies.
by: Hyun-Seok Jin, et al.
Published: (2017-01-01)

A novel mutation of LIM2 causes autosomal dominant membranous cataract in a Chinese family
by: Rui Pei, et al.
Published: (2020-10-01)

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
by: Bushra Irum, et al.
Published: (2016-01-01)

A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract
by: Yung-Hao Ching, et al.
Published: (2019-01-01)

Understanding the molecular basis of Congenital Hyperinsulinism due to autosomal dominant ABCC8 and KCNJ11 mutations
by: Nessa, A.
Published: (2014)

The clinical and genetic heterogeneity of autosomal dominant cataract
by: Ionides, Alexander C. W.
Published: (2002)

The impact of GJA3 SNPs on susceptibility to age-related cataract
by: Xia-Jing Tang, et al.
Published: (2019-06-01)

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
by: Bushra Irum, et al.
Published: (2017-01-01)

Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts
by: Masoumeh Mohebi, et al.
Published: (2017-03-01)

SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
by: Tao Zhang, et al.
Published: (2021-01-01)

The molecular defect in ectodermal dysplasia caused by an autosomal, dominant mutation.
by: Gold, Reynold John Morley
Published: (1971)

Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case)
by: I. V. Zolnikova, et al.
Published: (2021-04-01)

Correction: Mutations in Cause Autosomal Recessive Congenital Ichthyosis in Humans.
by: Franz P. W. Radner, et al.
Published: (2013-06-01)

Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts.
by: Jian-Huan Chen, et al.
Published: (2016-06-01)

In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract
by: Mingzhou Zhang, et al.
Published: (2020-03-01)

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
by: Franz P W Radner, et al.
Published: (2013-06-01)

X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
by: Naihong Yan, et al.
Published: (2019-03-01)

Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family
by: Chao Shen, et al.
Published: (2017-05-01)

A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia
by: Carol A. Wittlieb-Weber, MD, et al.
Published: (2016-01-01)

Correction: Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
by: Franz P. W. Radner, et al.
Published: (2013-06-01)

Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract
by: Masoumeh Mohebi, et al.
Published: (2017-01-01)

Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr
by: Dandan Li, et al.
Published: (2020-11-01)

A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family
by: Jia-Ze Tan, et al.
Published: (2016-01-01)

Novel mutations in HSF4 cause congenital cataracts in Chinese families
by: Zongfu Cao, et al.
Published: (2018-08-01)

Discovery and validation of autosomal dominant Alzheimer’s disease mutations
by: Simon Hsu, et al.
Published: (2018-07-01)

Cannot write session to /tmp/vufind_sessions/sess_mlvv1lgj05s0tmimro0bte4fjh