title: Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: case report and review of the literature.
abstract: MYH9 disorders are autosomal dominant diseases characterized by giant platelets, thrombocytopenia, and granulocyte inclusion bodies. These diseases are caused by mutations in the MYH9 gene that encodes nonmuscle myosin heavy chain IIA. We describe the case of a 27-year-old male who presented with macrothrombocytopenia and leukocyte inclusion bodies. Chronic kidney disease, probably due to progressive glomerulosclerosis, and high-tone sensorineural deafness were evident. Although deterioration of renal function necessitated renal replacement therapy in the form of peritoneal dialysis, we reconsidered the etiology of the kidney disease due to the patient's clinical history. We identified an in-frame deletion mutation in exon 24 of the MYH9 gene that resulted in the removal of 21 nucleotides. The patient was diagnosed with an MYH9 disorder. We report this novel abnormality of the nucleotide sequence and compare it with previous cases and their associated phenotypes.
authors.forename: Mami
authors.initials: M
authors.lastname: Ishida
authors.forename: Yasukiyo
authors.initials: Y
authors.lastname: Mori
authors.forename: Noriyoshi
authors.initials: N
authors.lastname: Ota
authors.forename: Toru
authors.initials: T
authors.lastname: Inaba
authors.forename: Shinji
authors.initials: S
authors.lastname: Kunishima
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005091:Exons; D020022:Genetic Predisposition to Disease; D006319:Hearing Loss, Sensorineural / Q000097:blood / Q000235:genetics* / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000097:blood / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D007962:Leukocytes / Q000473:pathology; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D010530:Peritoneal Dialysis; D010641:Phenotype; D017384:Sequence Deletion; D013921:Thrombocytopenia / Q000097:blood / Q000151:congenital* / Q000235:genetics / Q000473:pathology
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains