title: Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.
abstract: We present a 70-year-old male patient of Greek origin with choreatic movements of the tongue and face, lower limb muscle weakness, peripheral neuropathy, elevated creatinephosphokinase (CPK), acanthocytosis and haemolysis in the absence of Kell RBC antigens with an additional Factor IX-deficiency. Genetic testing for mutations in the three exons of the XK gene revealed a previously unreported hemizygous single base-pair frameshift deletion at exon 1 (c.229delC, p.Leu80fs). In conclusion, we hereby describe a rare phenotype of a patient with McLeod syndrome which was discovered coincidentally during routine blood group testing and consecutively genetically confirmed.
authors: Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
authors: Sarah
authors: S
authors: Wiethoff
authors: Department of Neurology, Papageorgiou Hospital, Thessaloniki, Greece.
authors: Georgia
authors: G
authors: Xiromerisiou
authors: Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: c.bettencourt@ucl.ac.uk.
authors: Conceição
authors: C
authors: Bettencourt
authors: Department of Haematology, Papageorgiou Hospital, Thessaloniki, Greece.
authors: Anna
authors: A
authors: Kioumi
authors: Department of Neurology, Papageorgiou Hospital, Thessaloniki, Greece.
authors: Iakovos
authors: I
authors: Tsiptsios
authors: Department of Neurology, Papageorgiou Hospital, Thessaloniki, Greece.
authors: Athanasios
authors: A
authors: Tychalas
authors: Department of Neurology, Papageorgiou Hospital, Thessaloniki, Greece.
authors: Markousi
authors: M
authors: Evaggelia
authors: Department of Haematology, Papageorgiou Hospital, Thessaloniki, Greece.
authors: Kaltsounis
authors: K
authors: George
authors: Orthopedic Department, Papageorgiou Hospital, Thessaloniki, Greece.
authors: Vasileios
authors: V
authors: Makris
authors: Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
authors: John
authors: J
authors: Hardy
authors: Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
authors: Henry
authors: H
authors: Houlden
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D020029:Base Pairing; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006461:Hemolysis / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009133:Muscular Atrophy / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D054546:Neuroacanthocytosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C087883:XK protein, human
keywords: Acanthocytosis; Chorea; Frameshift deletion; McLeod syndromes; Non-CGD; Novel mutation; XK gene