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Publication Detail
Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Case Reports
  • Authors:
    Wiethoff S, Xiromerisiou G, Bettencourt C, Kioumi A, Tsiptsios I, Tychalas A, Evaggelia M, George K, Makris V, Hardy J, Houlden H
  • Publication date:
    15/04/2014
  • Pagination:
    220, 222
  • Journal:
    J Neurol Sci
  • Volume:
    339
  • Issue:
    1-2
  • Status:
    Published
  • Country:
    Netherlands
  • PII:
    S0022-510X(14)00058-6
  • Language:
    eng
  • Keywords:
    Acanthocytosis, Chorea, Frameshift deletion, McLeod syndromes, Non-CGD, Novel mutation, XK gene, Aged, Amino Acid Sequence, Amino Acid Transport Systems, Neutral, Base Pairing, Exons, Gene Deletion, Hemolysis, Humans, Male, Molecular Sequence Data, Muscular Atrophy, Neuroacanthocytosis, Pedigree, Peripheral Nervous System Diseases
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.
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Clinical and Movement Neurosciences
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Neurodegenerative Diseases
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Department of Neuromuscular Diseases
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