title: [Clinical features and gene analyses of six patients with MYH9-related disease].
abstract: OBJECTIVE
  To investigate clinical features and to identify gene mutations in six patients with nonmuscle myosin heavy chain 9 gene (MYH9)-related disease.
  
  
  METHODS
  The platelet counts were measured using automated complete blood cell counter and manual manner. The size of platelets and inclusion bodies were observed under light microscopy. All the 40 exons and exon-intron boundaries of MYH9 gene were amplified by PCR and then DNA sequencing was performed. Restriction endonuclease analysis and polyacrylamide gel electrophoresis (PAGE) were used for polymorphism analysis.
  
  
  RESULTS
  Six patients all shared the common features of thrombocytopenia with giant platelets and granulocyte inclusions. Four MYH9 gene mutations were found in the six patients: T97C (W33R) in exon 1, 4335Insert CAGAAGAAG (1445InsQKK) and G4269A (D1424N) in exon 30 and G5833T (E1945Stop) in exon 40. The former two were novel mutations which have not been reported in the literature. The results of restriction endonuclease analysis and PAGE could exclude the possibility of nucleotide polymorphisms.
  
  
  CONCLUSIONS
  The MYH9 gene mutations were identified in six patients with MYH9 related disorders, and T97C (W33R) and 4335InsCAGAAGAAG (1445InsQKK) were novel mutations. MYH9 related disease should be considered in individuals with persistent thrombocytopenia which is non-responsive to corticosteroids and immuno-repressive agents.
authors.affiliation: Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Key Lab of Thrombosis and Hemostasis of Minstry of Health, Suzhou 215006, China.
authors.forename: Xiong-hua
authors.initials: XH
authors.lastname: Sun
authors.forename: Zhao-yue
authors.initials: ZY
authors.lastname: Wang
authors.forename: Li-juan
authors.initials: LJ
authors.lastname: Cao
authors.forename: Jian
authors.initials: J
authors.lastname: Su
authors.forename: Ming-hua
authors.initials: MH
authors.lastname: Jiang
authors.forename: Gai-feng
authors.initials: GF
authors.lastname: Wang
authors.forename: Zi-qiang
authors.initials: ZQ
authors.lastname: Yu
authors.forename: Xia
authors.initials: X
authors.lastname: Bai
authors.forename: Chang-geng
authors.initials: CG
authors.lastname: Ruan
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D005260:Female; D006801:Humans; D002479:Inclusion Bodies; D008297:Male; D008875:Middle Aged; D020409:Molecular Motor Proteins / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013921:Thrombocytopenia / Q000209:etiology* / Q000235:genetics*
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains