Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pone.0072518
Title: Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia
Authors: Dave A.
Laurie K.
Staffieri S.E.
Taranath D.
Mackey D.A.
Mitchell P.
Wang J.J. 
Craig J.E.
Burdon K.P.
Sharma S.
Keywords: ephrin A1
ephrin A5
article
Australia
autophosphorylation
congenital cataract
EPHA2 gene
exome
exon
family history
gene
gene mutation
gene sequence
genetic disorder
genetic screening
genetic variability
haplotype
human
microsatellite marker
missense mutation
phenotype
population research
protein domain
protein motif
protein phosphorylation
protein protein interaction
sequence alignment
sequence analysis
signal transduction
single nucleotide polymorphism
South Eastern Australia
Australia
Cataract
Cohort Studies
Family
Female
Gene Frequency
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Humans
Male
Pedigree
Point Mutation
Receptor, EphA2
Issue Date: 2013
Citation: Dave A., Laurie K., Staffieri S.E., Taranath D., Mackey D.A., Mitchell P., Wang J.J., Craig J.E., Burdon K.P., Sharma S. (2013). Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia. PLoS ONE 8 (8) : e72518. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0072518
Rights: Attribution 4.0 International
Abstract: Congenital cataract is the most common cause of treatable visual impairment in children worldwide. Mutations in many different genes lead to congenital cataract. Recently, mutations in the receptor tyrosine kinase gene, EPHA2, have been found to cause congenital cataract in six different families. Although these findings have established EPHA2 as a causative gene, the total contribution of mutations in this gene to congenital cataract is unknown. In this study, for the first time, a population-based approach was used to investigate the frequency of disease causing mutations in the EPHA2 gene in inherited cataract cases in South-Eastern Australia. A cohort of 84 familial congenital or juvenile cataract index cases was screened for mutations in the EPHA2 gene by direct sequencing. Novel changes were assessed for segregation with the disease within the family and in unrelated controls Microsatellite marker analysis was performed to establish any relationship between families carrying the same mutation. We report a novel congenital cataract causing mutation c.1751C>T in the EPHA2 gene and the previously reported splice mutation c.2826-9G>A in two new families. Additionally, we report a rare variant rs139787163 potentially associated with increased susceptibility to cataract. Thus mutations in EPHA2 account for 4.7% of inherited cataract cases in South-Eastern Australia. Interestingly, the identified rare variant provides a link between congenital and age-related cataract. © 2013 Dave et al.
Source Title: PLoS ONE
URI: https://scholarbank.nus.edu.sg/handle/10635/161273
ISSN: 19326203
DOI: 10.1371/journal.pone.0072518
Rights: Attribution 4.0 International
Appears in Collections:Staff Publications
Elements

Show full item record
Files in This Item:
File Description SizeFormatAccess SettingsVersion 
10_1371_journal_pone_0072518.pdf1.37 MBAdobe PDF

OPEN

NoneView/Download

SCOPUSTM   
Citations

25
checked on Jan 12, 2021

Page view(s)

107
checked on Jan 15, 2021

Google ScholarTM

Check

Altmetric


This item is licensed under a Creative Commons License Creative Commons