MYH9 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Non-muscle myosin heavy chain IIA
  • Involved in cell motility, adhesion, and maintenance of cell shape
Clinical phenotype
(OMIM phenotype no.)
Inheritance
  • Autosomal dominant
Ocular features
  • Congenital cataracts
  • Glaucoma
Visual function
  • Progressive vision impairment due to lens opacification and glaucoma
Systemic features
  • Thrombocytopenia
  • Hearing loss
  • Renal abnormalities
Key investigations
  • Slit-lamp microscopy: lens opacities
  • Blood tests: thrombocytopenia
  • Genetic testing: identification of MYH9 mutations
Management
  • Supportive care and management of systemic symptoms
  • Early diagnosis and surgical intervention for cataract removal
Therapies under research
  • None currently specified

Jump to top


References

  1. Wang Z, Huang C, Sun Y, Lv H, Zhang M, Li X. Novel mutations associated with autosomal dominant congenital cataract identified in Chinese families. Experimental and Therapeutic Medicine. 2019 Oct 1;18(4):2701-10.
  2. Aoki T, Kunishima S, Yamashita Y, Minamitani K, Ota S. Macrothrombocytopenia with congenital bilateral cataracts: A phenotype of MYH9 disorder with Exon 24 indel mutations. Journal of pediatric hematology/oncology. 2018 Jan 1;40(1):76-8.

Jump to top

Updated on July 8, 2024
Was this article helpful?