LIM2 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Lens intrinsic membrane protein 2 (MP19)
  • Second most abundant integral membrane protein in lens fibre cells
  • Involved in cell junction communication in the lens
Clinical phenotype
(OMIM phenotype no.)
  • Cataract 19, multiple types (CTRCT19) (#615277)
Inheritance
  • Autosomal recessive
Ocular features
  • Congenital cataracts
  • Cortical pulverulent cataracts
  • Total cataracts
Visual function
  • Progressive vision impairment due to lens opacification
Systemic features
  • No associated systemic features
Key investigations
  • Slit-lamp microscopy: lens opacities
  • Genetic testing: identification of LIM2 mutations through targeted gene panels or whole exome sequencing
Management
  • Early diagnosis and surgical intervention for cataract removal
  • Optical correction and visual rehabilitation
Therapies under research
  • None currently specified

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References

  1.  Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. The American Journal of Human Genetics. 2002 May 1;70(5):1363-7.
  2.  Steele Jr EC, Kerscher S, Lyon MF, Glenister PH, Favor J, Wang J, Church RL. Identification of a mutation in the MP19 gene, Lim2, in the cataractous mouse mutant To3. Mol Vis. 1997 May 7;3(5):9238094.

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Updated on July 8, 2024
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