title: A spontaneous novel XK gene mutation in a patient with McLeod syndrome.
abstract: A 29-year-old man with a history of elevated creatine kinase and necrotizing myopathy was reviewed. Prominent red cell acanthocytosis in association with reduced Kell antigen expression was present, findings consistent with the McLeod syndrome. Investigation of the patient's XK gene revealed a novel TGG- to-TAG transition at position 1023 in exon 3. This point mutation creates an in-frame stop codon (W314X), and predicts a truncated XK protein of 313 amino acids, compared with 444 amino acids in the normal XK protein. The mutation was not identified in the patient's mother or sister indicating that this mutation was spontaneous.
authors.affiliation: The Kanematsu Laboratories, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
authors.forename: S G
authors.initials: SG
authors.lastname: Supple
authors.forename: H J
authors.initials: HJ
authors.lastname: Iland
authors.forename: M H
authors.initials: MH
authors.lastname: Barnett
authors.forename: J D
authors.initials: JD
authors.lastname: Pollard
mesh_terms: D000328:Adult; D026921:Amino Acid Transport Systems, Neutral; D002352:Carrier Proteins / Q000235:genetics*; D002819:Chorea / Q000097:blood / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006402:Hematologic Diseases / Q000097:blood / Q000235:genetics*; D006801:Humans; D007626:Kell Blood-Group System / Q000097:blood; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation; D013577:Syndrome
chemical_list: D026921:Amino Acid Transport Systems, Neutral; D002352:Carrier Proteins; D007626:Kell Blood-Group System; D008565:Membrane Proteins; C087883:XK protein, human