title: Familial cases with MYH9 disorders caused by MYH9 S96L mutation.
abstract: We report familial cases with MYH9 disorders: a 1-year-old Japanese boy who presented only with macrothrombocytopenia, and his 33-year-old father who had been diagnosed with refractory chronic idiopathic thrombocytopenic purpura, and suffered from hearing loss and chronic renal failure. Peripheral blood smears revealed giant platelets but no Döhle body-like cytoplasmic inclusion bodies in neutrophils. Heterozygous MYH9 S96L mutations were found in the patient and his father, resulting in the diagnosis of a familial case with MYH9 disorders. The possibility of MYH9 disorders including Epstein syndrome should be assessed in cases of thrombocytopenia through the careful examination of hematological features.
authors: Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan. makiyama@jikei.ac.jp
authors: Shizuko
authors: S
authors: Murayama
authors: Masaharu
authors: M
authors: Akiyama
authors: Hiroyuki
authors: H
authors: Namba
authors: Yasuyuki
authors: Y
authors: Wada
authors: Hiroyuki
authors: H
authors: Ida
authors: Shinji
authors: S
authors: Kunishima
mesh_terms: D000328:Adult; D005819:Genetic Markers; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D017354:Point Mutation; D013921:Thrombocytopenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics
chemical_list: D005819:Genetic Markers; C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains