[Autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies and MYH9 disorders].

Abstract

May-Hegglin anomaly (MHA) is the prototype of autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies/MYH9 disorders that result from mutations in MYH9, the gene for nonmuscle myosin heavy chain-IIA (NMMHC-IIA). Others include Sebastian, Fechtner, and Epstein syndromes. A clear phenotype-genotype relationship has not been found; however, patients with an MYH9 head domain mutation tend to develop Alport manifestations more frequently than those with a rod domain mutation. Patients initially diagnosed with MHA and/or Sebastian syndrome can subsequently develop nephritis, deafness, and/or cataracts. Thus, the development of Alport manifestations should be monitored by careful follow-up.

• Authors: Shinji Kunishima
• Journal: Rinsho byori. The Japanese journal of clinical pathology (Rinsho Byori) Vol. 57 Issue 4 Pg. 365-70 (Apr 2009) ISSN: 0047-1860 [Print] Japan
• PMID: 19489439 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• MYH9 protein, human
• Molecular Motor Proteins
• Nonmuscle Myosin Type IIA
• Myosin Heavy Chains

Topics

• Genes, Dominant
• Humans
• Inclusion Bodies (pathology)
• Leukocytes (cytology)
• Molecular Motor Proteins (genetics)
• Myosin Heavy Chains (genetics)
• Nephritis, Hereditary
• Nonmuscle Myosin Type IIA (genetics)
• Syndrome
• Thrombocytopenia (genetics, pathology)