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A novel c.82insC (p.Tyr28Leufs85X) mutation in the XK gene associated with the McLeod phenotype

McLeod syndrome (MLS), a rare X-linked disorder, is associated with neuroacanthocytosis and involves mutations in the XK gene. The Kx antigen is the product of the XK gene and is absent on the surface of red blood cell (RBC) from patients with MLS. The McLeod phenotype is serologically defined by reduced expression of Kell antigens and absence of the Kx antigen on the RBC surface. The XK gene comprises three exons and encodes a 444-amino-acid protein with 10 putative transmembrane domains. The McLeod phenotype may result from specific deletions, insertions, and point mutations in the XK gene. Variant alleles with small nucleotide changes are grouped into classifications XK*N.01 to XK*N.43 and the 17 larger contiguous deletions as per the RBC by immunogenetics and blood group terminology of the International Society of Blood Transfusion. In this study, we identified a novel XK allele in a Japanese blood donor who presented with the McLeod phenotype. This 23-year-old male donor manifested no clinical symptoms, and his family history was not known in detail.