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

• Published in: Journal of the neurological sciences Vol. 339; no. 1; pp. 220 - 222
• Main Authors: Wiethoff, Sarah, Xiromerisiou, Georgia, Bettencourt, Conceição, Kioumi, Anna, Tsiptsios, Iakovos, Tychalas, Athanasios, Evaggelia, Markousi, George, Kaltsounis, Makris, Vasileios, Hardy, John, Houlden, Henry
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15-04-2014; Elsevier
• Subjects: Acanthocytosis; Aged; Amino Acid Sequence; Amino Acid Transport Systems, Neutral - genetics; Base Pairing; Chorea; Exons - genetics; Frameshift deletion; Gene Deletion; Hemolysis - genetics; Humans; Male; McLeod syndromes; Molecular Sequence Data; Muscular Atrophy - complications; Muscular Atrophy - diagnosis; Muscular Atrophy - genetics; Neuroacanthocytosis - complications; Neuroacanthocytosis - diagnosis; Neuroacanthocytosis - genetics; Neurology; Non-CGD; Novel mutation; Pedigree; Peripheral Nervous System Diseases - complications; Peripheral Nervous System Diseases - diagnosis; Peripheral Nervous System Diseases - genetics; Short Communication; XK gene; McLeod syndromes; XK gene; Acanthocytosis; Non-CGD; Chorea; Frameshift deletion; Novel mutation
• ISSN: 0022-510X; 1878-5883
• DOI: 10.1016/j.jns.2014.01.034

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.