A novel frameshift mutation in the McLeod syndrome gene in a Japanese family

We report a novel mutation in the XK gene (XK) in a Japanese patient with M cLeod syndrome. A 50-year-old man showed progressive muscular atrophy, chor eic movement, elevated level of serum creatinine kinase, and acanthocytosis . The expression level of all the Kell antigens in erythrocyte was decrease d and molecular analysis revealed a single-base (T) deletion at the nucleot ide position 1095 in XK. This deletion caused a frameshift in translation, leading to a premature stop codon at the amino acid position 408. We conclu de this single-base deletion causes defective Kx protein, which is responsi ble for the McLeod phenotype in this patient. (C) 1999 Elsevier Science B.V . All rights reserved.