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

Berry, Vanita; Pontikos, Nikolas; Dudakova, Lubica; Moore, Anthony T.; Quinlan, Roy; Liskova, Petra; Michaelides, Michel

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Authors

Vanita Berry

Nikolas Pontikos

Lubica Dudakova

Anthony T. Moore

Petra Liskova

Michel Michaelides



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.

Citation

Berry, V., Pontikos, N., Dudakova, L., Moore, A. T., Quinlan, R., Liskova, P., & Michaelides, M. (2020). A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract. Ophthalmic Genetics, 41(2), 131-134. https://doi.org/10.1080/13816810.2020.1737950

Journal Article Type Article
Acceptance Date Feb 28, 2020
Online Publication Date Mar 23, 2020
Publication Date 2020
Deposit Date Apr 21, 2020
Publicly Available Date Mar 28, 2024
Journal Ophthalmic Genetics
Print ISSN 1381-6810
Electronic ISSN 1744-5094
Publisher Taylor and Francis Group
Peer Reviewed Peer Reviewed
Volume 41
Issue 2
Pages 131-134
DOI https://doi.org/10.1080/13816810.2020.1737950

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