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
Professor Roy Quinlan email@example.com
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.
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|
|Deposit Date||Jul 21, 2022|
|Publicly Available Date||Feb 8, 2023|
|Publisher||Taylor and Francis Group|
|Peer Reviewed||Peer Reviewed|
Published Journal Article
Publisher Licence URL
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.