- Human pathology

Home > A. Molecular pathology > MYH9


MIM.160775 22q11.2

Sunday 22 August 2004


- germline mutations

  • germline mutation in the May-Hegglin anomaly (MIM.155100)
    • May-Hegglin anomaly is an autosomal dominant disorder characterized by thrombocytopenia, giant platelets with few granules, and light blue inclusions peripherally located in the cytoplasm of granulocytes. The mutation is in the gene encoding non-muscle myosin heavy chain IIA (MYH9 ).
  • germline mutation in the Sebastian syndrome (MIM.605249)
  • germline mutation in the Fechtner syndrome (MIM.153640)
  • germline mutation in progressive hearing impairment with cochleosaccular degeneration (DFNA17) (MIM.603622)
  • germline mutation in Alport-like syndrome with macrothrombocytopenia (MIM.153650)

- ALK-MYH9 fusion gene by t(2;22)(p23;q11.2) in anaplastic large cell lymphoma (ALCL)

- MYH9-USP6 fusion gene in nodular fasciitis (21826056)


- Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion. Erickson-Johnson MR, Chou MM, Evers BR, Roth CW, Seys AR, Jin L, Ye Y, Lau AW, Wang X, Oliveira AM. Lab Invest. 2011 Oct;91(10):1427-33. PMID: 21826056