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.
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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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