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

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posted on 2023-05-17, 21:59 authored by Dave, A, Laurie, K, Staffieri, SE, Taranath, D, David MackeyDavid Mackey, Mitchell, P, Wang, JJ, Craig, JE, Kathryn BurdonKathryn Burdon, Sharma, S
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.

History

Publication title

PLoS One

Volume

8

Issue

8

Article number

e72518

Number

e72518

Pagination

1-7

ISSN

1932-6203

Department/School

Tasmanian School of Medicine

Publisher

Public Library of Science

Place of publication

USA

Rights statement

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

Repository Status

  • Open

Socio-economic Objectives

Clinical health not elsewhere classified

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