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MYH9

MIM.160775 22q11.2

Sunday 22 August 2004

Pathology

- germline mutations

  • germline mutation in the May-Hegglin anomaly (MIM.155100)
  • 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)

References

- 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