MYH9 gene


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.)
  • 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
  • Supportive care and management of systemic symptoms
  • Early diagnosis and surgical intervention for cataract removal
Therapies under research
  • None currently specified

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  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.

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Updated on July 8, 2024
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