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A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract

Berry, V; Pontikos, N; Albarca-Aguilera, M; Plagnol, V; Massouras, A; Prescott, D; Moore, AT; ... Michaelides, M; + view all (2017) A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract. Ophthalmic Genet 10.1080/13816810.2017.1381977. (In press). Green open access

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Abstract

Intoduction: Inherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of autosomal dominant (AD) posterior nuclear cataract in a four generation British family. METHODS: Whole genome sequence (WGS) was performed on two affected and one unaffected individual of the family and further validated by direct sequencing. Haplotype analysis was performed via genotying. RESULTS: A splice-site mutation c.2826-9G>A in the gene EPHA2, encoding EPH receptor A2 was identified and found to co-segregate with disease. CONCLUSIONS: We have identified a recurrent splice-site mutation c.2826-9G>A in EPHA2 causing isolated posterior nuclear cataract, providing evidence of further phenotypic heterogeneity associated with this variant.

Type: Article
Title: A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1080/13816810.2017.1381977
Publisher version: http://doi.org/10.1080/13816810.2017.1381977
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Congenital cataract, EPHA2, whole genome sequencing
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
URI: http://discovery.ucl.ac.uk/id/eprint/10042950
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