title: A novel frameshift mutation in the McLeod syndrome gene in a Japanese family.
abstract: We report a novel mutation in the XK gene (XK) in a Japanese patient with McLeod syndrome. A 50-year-old man showed progressive muscular atrophy, choreic movement, elevated level of serum creatinine kinase, and acanthocytosis. The expression level of all the Kell antigens in erythrocyte was decreased and molecular analysis revealed a single-base (T) deletion at the nucleotide position 1095 in XK. This deletion caused a frameshift in translation, leading to a premature stop codon at the amino acid position 408. We conclude this single-base deletion causes defective Kx protein, which is responsible for the McLeod phenotype in this patient.
authors.affiliation: Department of Medicine (Neurology), Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Hanaoka
authors.forename: K
authors.initials: K
authors.lastname: Yoshida
authors.forename: A
authors.initials: A
authors.lastname: Nakamura
authors.forename: K
authors.initials: K
authors.lastname: Furihata
authors.forename: T
authors.initials: T
authors.lastname: Seo
authors.forename: Y
authors.initials: Y
authors.lastname: Tani
authors.forename: J
authors.initials: J
authors.lastname: Takahashi
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
authors.forename: N
authors.initials: N
authors.lastname: Hanyu
mesh_terms: D026921:Amino Acid Transport Systems, Neutral; D000954:Antigens, Surface / Q000096:biosynthesis / Q000235:genetics; D001798:Blood Proteins / Q000096:biosynthesis / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging; D002352:Carrier Proteins / Q000096:biosynthesis / Q000235:genetics; D004247:DNA / Q000032:analysis / Q000235:genetics; D005434:Flow Cytometry; D016368:Frameshift Mutation / Q000235:genetics / Q000502:physiology*; D008040:Genetic Linkage / Q000235:genetics / Q000502:physiology; D006413:Hematopoietic System / Q000503:physiopathology; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000096:biosynthesis / Q000235:genetics; D008565:Membrane Proteins / Q000096:biosynthesis / Q000235:genetics; D008875:Middle Aged; D009468:Neuromuscular Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014960:X Chromosome / Q000235:genetics*
chemical_list: D026921:Amino Acid Transport Systems, Neutral; D000954:Antigens, Surface; D001798:Blood Proteins; D002352:Carrier Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; C087883:XK protein, human; C041106:kell-active proteins; D004247:DNA