title: A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.
abstract: In this report, we describe a Korean patient with May-Hegglin anomaly from a mutation of the MYH9 gene. The proband was a 21-year-old man with thrombocytopenia. He did not have a bleeding tendency. His neutrophil count was normal at 7490/mm³; however, the neutrophils contained abnormal basophilic inclusions in their cytoplasm. The platelet count was decreased at 15,000/mm³ with giant platelets. Coagulation test results were not remarkable. Direct sequencing of MYH9 revealed that he was heterozygous for a mutation in exon 1, which was a 97T>A substitution mutation affecting codon 33, substituting tryptophan with arginine (Trp33Arg). Family study showed that both of his parents had normal phenotype and genotypes, indicating a de novo occurrence of the mutation in the proband.
authors.affiliation: Department of Internal Medicine, School of Medicine, CHA University, 59 Yatap-ro, Bundang-gu, Seongnam 463-712, Korea.
authors.forename: Moon Ju
authors.initials: MJ
authors.lastname: Jang
authors.forename: Hyun-Jeong
authors.initials: HJ
authors.lastname: Park
authors.forename: So Young
authors.initials: SY
authors.lastname: Chong
authors.forename: Ji Young
authors.initials: JY
authors.lastname: Huh
authors.forename: In-Ho
authors.initials: IH
authors.lastname: Kim
authors.forename: Ja-Hyun
authors.initials: JH
authors.lastname: Jang
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Doyeun
authors.initials: D
authors.lastname: Oh
mesh_terms: D000328:Adult; D044466:Asian People; D005091:Exons / Q000235:genetics*; D006319:Hearing Loss, Sensorineural; D006801:Humans; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics* / Q000151:congenital; D055815:Young Adult
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains