Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis

Sarah Wiethoff, Georgia Xiromerisiou, Conceição Bettencourt, Anna Kioumi, Iakovos Tsiptsios, Athanasios Tychalas, Markousi Evaggelia, Kaltsounis George, Vasileios Makris, John Hardy, Henry Houlden
Journal of the Neurological Sciences 2014 April 15, 339 (1-2): 220-2
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.

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