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dc.contributor.authorDave, Alpana
dc.contributor.authorLaurie, Kate
dc.contributor.authorStaffieri, Sandra E
dc.contributor.authorTaranath, Deepa A
dc.contributor.authorMackey, David A
dc.contributor.authorMitchell, Paul
dc.contributor.authorWang, Jie Jin
dc.contributor.authorCraig, Jamie E
dc.contributor.authorBurdon, Kathryn Penelope
dc.contributor.authorSharma, Shiwani
dc.date.accessioned2016-05-18T23:26:05Z
dc.date.available2016-05-18T23:26:05Z
dc.date.issued2013
dc.identifier.citationDave A, Laurie K, Staffieri SE, Taranath D, Mackey DA, Mitchell P, Wang JJ, Craig JE, Burdon KP, Sharma S. Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. PLoS One. 2013 Aug 27;8(8):e72518. doi: 10.1371/journal.pone.0072518.en
dc.identifier.issn1932-6203
dc.identifier.urihttp://hdl.handle.net/2328/36112
dc.descriptionThis is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.en
dc.description.abstractCongenital 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.en
dc.language.isoen
dc.publisherPublic Library of Scienceen
dc.relationhttp://purl.org/au-research/grants/nhmrc/1059954en
dc.relationhttp://purl.org/au-research/grants/NHMRC/GNT1995500en
dc.relationhttp://purl.org/au-research/grants/NHMRC/1065433en
dc.rightsCopyright 2013 Dave et al.en
dc.titleMutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.en
dc.typeArticleen
dc.relation.grantnumberNHMRC/DP140101448en
dc.relation.grantnumberNHMRC/1059954en
dc.relation.grantnumberNHMRC/1995500en
dc.relation.grantnumberNHMRC/1065433en
dc.identifier.doihttps://doi.org/10.1371/journal.pone.0072518en
dc.rights.holderThe Authorsen
dc.rights.licenseCC-BY


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