LEMD2 gene


Gene (OMIM No.)
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)
  • Autosomal recessive
  • All reported cases harbor homozygous p.Leu13Arg mutation
Ocular features
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 diagnosisNext generation sequencing
  • Targeted gene panels (cataract)
  • Whole exome sequencing
  • Whole genome sequencing
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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  1.  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
  2.  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
  3.  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
  4.  Shokeir MH, Lowry RB. Juvenile cataract in Hutterites. Am J Med Genet. 1985;22(3):495‐500

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Updated on November 30, 2020
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