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A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract

Berry, V; Pontikos, N; Dudakova, L; Moore, AT; Quinlan, R; Liskova, P; Michaelides, M; (2020) A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract. Ophthalmic Genetics , 41 (2) pp. 131-134. 10.1080/13816810.2020.1737950. Green open access

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Abstract

BACKGROUND: Congenital cataract is the most common cause of blindness in the world. Congenital cataracts are clinically and genetically heterogeneous and are mostly inherited in an autosomal dominant fashion. We identified the genetic cause of isolated autosomal dominant cataract in a four-generation British family and a Czech family. METHODS: Whole exome sequencing (WES) was performed on one affected member in the British family and two affected members in the Czech family. RESULTS: A novel missense variant c.388C > T; p.(R130C) was identified in the Lens integral membrane protein (LIM2) and found to co-segregate with disease in both families. CONCLUSIONS: Here we report the first autosomal dominant congenital cataract variant p.(R130C) in LIM2, causing a non-syndromic pulverulent and nuclear phenotype in European families.

Type: Article
Title: A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract
Open access status: An open access version is available from UCL Discovery
DOI: 10.1080/13816810.2020.1737950
Publisher version: https://doi.org/10.1080/13816810.2020.1737950
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 cataracts, whole exome sequencing, WES, LIM2
UCL classification: UCL
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
URI: https://discovery.ucl.ac.uk/id/eprint/10095674
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