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A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family

Berry, Vanita; Fujinami, Kaoru; Mochizuki, Kiyofumi; Iwata, Takeshi; Pontikos, Nikolas; Quinlan, Roy A; Michaelides, Michel; (2022) A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family. Ophthalmic Genetics 10.1080/13816810.2022.2090010. Green open access

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Abstract

Background Genetically determined cataract is both clinically and molecularly highly heterogeneous. Here, we have identified a heterozygous variant in the lens integral membrane protein LIM2, the second most abundant protein in the lens, responsible for congenital sutural/lamellar cataract in a three-generation Japanese family. Methods Whole exome sequencing (WES) was undertaken in one affected and one unaffected individual from a family with autosomal dominant congenital cataract to establish the underlying genetic basis. Results A recurrent missense variant LIM2: c.388C>T; p.R130C was identified and found to co-segregate with disease. In addition, one variant COL11A1:c.3788C>T of unknown significance (VUS) was also identified. Conclusions We report a variant in LIM2 causing an isolated autosomal-dominant congenital sutural/lamellar cataract in a Japanese family. This is the first report of a LIM2 variant in the Japanese population. Hence, we expand the mutation spectrum of LIM2 variants in different ethnic groups.

Type: Article
Title: A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family
Open access status: An open access version is available from UCL Discovery
DOI: 10.1080/13816810.2022.2090010
Publisher version: https://doi.org/10.1080/13816810.2022.2090010
Language: English
Additional information: This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited, and is not altered, transformed, or built upon in any way.
Keywords: Autosomal dominant congenital sutural/lamellar cataract, WES, LIM2, COL11A1
UCL classification: 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
UCL
URI: https://discovery.ucl.ac.uk/id/eprint/10150850
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