GCNT2 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Glucosaminyl (N-acetyl) transferase 2
  • Involved in the biosynthesis of blood group I antigen
Clinical phenotype
(OMIM phenotype no.)
  • Congenital cataracts, dysmorphic facies, and psychomotor retardation (CDG2A) (#600429)
Inheritance
  • Autosomal recessive
Ocular features
  • Cataracts
Visual function
  • Vision loss due to cataracts
Systemic features
  • Dysmorphic facial features
  • Psychomotor retardation
Key investigations
  • Slit-lamp examination: lens opacities
  • Genetic testing: identification of GCNT2 mutations
Management
  • Surgical intervention for cataract removal
  • Supportive care for developmental delays
Therapies under research
  • None currently specified

Jump to top


References

  1. Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF. A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. Investigative ophthalmology & visual science. 2004 Jun 1;45(6):1940-5.

Jump to top

Updated on July 8, 2024
Was this article helpful?