LEMD2 gene

Overview

Gene (OMIM No.)	LEMD2 (#616312)
Function of gene/protein	Protein: LEM domain-containing protein of the inner nuclear membrane Involved in the organization of nuclear structure, as well as differentiation and cell signaling
Clinical phenotype (OMIM phenotype no.)	Cataract 46, juvenile onset (#212500)
Inheritance	Autosomal recessive All reported cases harbor homozygous p.Leu13Arg mutation
Ocular features	Congenital/juvenile cataract (usually present in the 1st decade of life) Rapidly progressive
Systemic features	Some have arrhythmic cardiomyopathy which can result in sudden cardiac death Left ventricular cardiomyopathy with/without dilation
Key investigations	B-scan USS to measure axial length to document microphthalmia and detect any posterior segment abnormalities Electrophysiology TORCH screen Systemic assessment with a paediatrician and other relevant specialists Electrocardiogram and echocardiogram
Molecular diagnosis	Next generation sequencing Targeted gene panels (cataract) Whole exome sequencing Whole genome sequencing
Management	Ocular Management of congenital cataract Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	OMIM

Abdelfatah N, Chen R, Duff HJ, et al. Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2. JACC Basic Transl Sci. 2019;4(2):204‐221
Boone PM, Yuan B, Gu S, et al. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2015;4(1):77‐94
Gerull B, Kirchner F, Chong JX, et al. Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Circ Cardiovasc Genet. 2013;6(4):327‐336
Shokeir MH, Lowry RB. Juvenile cataract in Hutterites. Am J Med Genet. 1985;22(3):495‐500

Updated on November 30, 2020