[Autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies and MYH9 disorders].
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.
Kunishima
Shinji
S
Laboratory of Molecular Diagnosis, Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya 460-0001, Japan. kunishis@nnh.hosp.go.jp
D005799:Genes, Dominant; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology*; D007962:Leukocytes / Q000166:cytology*; D020409:Molecular Motor Proteins / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D009394:Nephritis, Hereditary; D024507:Nonmuscle Myosin Type IIA / Q000235:genetics; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics* / Q000473:pathology
C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D024507:Nonmuscle Myosin Type IIA; D018995:Myosin Heavy Chains