title: Genotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder: Report of a Japanese Pedigree.
abstract: MYH9 disorder is a rare autosomal dominant disease characterized by congenital thrombocytopenia with giant platelets and leukocyte inclusion bodies and is often associated with Alport-like symptoms, such as glomerulonephritis, sensorineural hearing loss, and cataracts. We report a Japanese pedigree wherein the MYH9 p.R1165C mutation was present in over 4 generations. Three individuals were misdiagnosed as Bernard-Soulier syndrome carriers. Among the 12 patients with abnormal hematological features, the proband's mother, aunt, and grandaunt presented with sensorineural hearing impairment, and the mother presented with presenile cataract, and nephritis. This case report confirms the previously established genotype-phenotype correlations of the MYH9 disorder that p.R1165C is associated with variable expression of nonhematological manifestations. Careful detection of leukocyte inclusion bodies in peripheral blood smears is necessary to prevent misdiagnosis.
authors.affiliation: *Department of Pediatrics, Fukagawa Municipal Hospital, Fukagawa †Department of Pediatrics, Asahikawa Medical University, Asahikawa ‡Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan.
authors.forename: Satomi
authors.initials: S
authors.lastname: Okano
authors.forename: Masashi
authors.initials: M
authors.lastname: Takase
authors.forename: Kenichi
authors.initials: K
authors.lastname: Iseki
authors.forename: Naohisa
authors.initials: N
authors.lastname: Toriumi
authors.forename: Makoto
authors.initials: M
authors.lastname: Kaneda
authors.forename: Shinji
authors.initials: S
authors.lastname: Kunishima
mesh_terms: D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000235:genetics* / Q000473:pathology; D002648:Child; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D013577:Syndrome; D013921:Thrombocytopenia / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains