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Article

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

Ophthalmic genetics - 1 Oct 2022

Berry Vanita, Fujinami Kaoru, Mochizuki Kiyofumi, Iwata Takeshi, Pontikos Nikolas, Quinlan Roy A, Michaelides Michel

Abstract excerpt

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...

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Identifiers

PMID: 35736209
DOI: 10.1080/13816810.2022.2090010
PMCID: PMC9612932

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