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

doi:10.1080/13816810.2022.2090010

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

Authors

Vanita Berry

Kaoru Fujinami

Kiyofumi Mochizuki

Takeshi Iwata

Nikolas Pontikos

Professor Roy Quinlan r.a.quinlan@durham.ac.uk
Emeritus Professor

Michel Michaelides

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.

Citation

Berry, V., Fujinami, K., Mochizuki, K., Iwata, T., Pontikos, N., Quinlan, R. A., & Michaelides, M. (2022). A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family. Ophthalmic Genetics, 43(5), 622-626. https://doi.org/10.1080/13816810.2022.2090010

Journal Article Type	Article
Acceptance Date	Jun 11, 2022
Online Publication Date	Jun 23, 2022
Publication Date	2022
Deposit Date	Jul 21, 2022
Publicly Available Date	Feb 8, 2023
Journal	Ophthalmic Genetics
Print ISSN	1381-6810
Electronic ISSN	1744-5094
Publisher	Taylor and Francis Group
Peer Reviewed	Peer Reviewed
Volume	43
Issue	5
Pages	622-626
DOI	https://doi.org/10.1080/13816810.2022.2090010

Files

Published Journal Article (2.1 Mb)
PDF

Publisher Licence URL
http://creativecommons.org/licenses/by/4.0/

Copyright Statement
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.