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Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia

Citation

Dave, A and Laurie, K and Staffieri, SE and Taranath, D and Mackey, DA and Mitchell, P and Wang, JJ and Craig, JE and Burdon, KP and Sharma, S, Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia, PLoS One, 8, (8) Article e72518. ISSN 1932-6203 (2013) [Refereed Article]


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Licensed under Creative Commons Attribution 3.0 Unported (CC BY 3.0) http://creativecommons.org/licenses/by/3.0/

DOI: doi:10.1371/journal.pone.0072518

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.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Inherited Diseases (incl. Gene Therapy)
Author:Mackey, DA (Professor David Mackey)
Author:Burdon, KP (Associate Professor Kathryn Burdon)
ID Code:88721
Year Published:2013
Web of Science® Times Cited:16
Deposited By:Medicine (Discipline)
Deposited On:2014-02-13
Last Modified:2014-11-04
Downloads:174 View Download Statistics

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