title: Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders.
abstract: MYH9 disorders are autosomal dominant macrothrombocytopenias with leukocyte inclusion bodies. Single point mutations in the protein-coding sequence of the MYH9 gene are the most common cause. So far no large gene deletion/insertion and splicing defects have been reported. Conventional DNA sequencing of each MYH9-coding exon showed no abnormalities in a patient. Reverse transcription- polymerase chain reaction (PCR) amplification and sequencing of neutrophil mRNA identified an inframe deletion of exon 25. Further long-range PCR amplification of genomic DNA revealed a deletion of 1220 nucleotides including entire exon 25. Immunoblot analysis showed a small, abnormal protein in neutrophils but not in platelets. This is the first report of a large deletion of the MYH9 gene leading to the development of MYH9 disorders.
authors.affiliation: Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan. kunishis@nnh.hosp.go.jp
authors.forename: Shinji
authors.initials: S
authors.lastname: Kunishima
authors.forename: Tadashi
authors.initials: T
authors.lastname: Matsushita
authors.forename: Motohiro
authors.initials: M
authors.lastname: Hamaguchi
authors.forename: Hidehiko
authors.initials: H
authors.lastname: Saito
mesh_terms: D000328:Adult; D001483:Base Sequence; D015153:Blotting, Western; D017931:DNA Primers; D017353:Gene Deletion; D006801:Humans; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics*
chemical_list: D017931:DNA Primers; C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains