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

J Neurol Sci. 2014 Apr 15;339(1-2):220-2. doi: 10.1016/j.jns.2014.01.034. Epub 2014 Feb 1.

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.

Keywords: Acanthocytosis; Chorea; Frameshift deletion; McLeod syndromes; Non-CGD; Novel mutation; XK gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Amino Acid Transport Systems, Neutral / genetics*
  • Base Pairing
  • Exons / genetics
  • Gene Deletion*
  • Hemolysis / genetics
  • Humans
  • Male
  • Molecular Sequence Data
  • Muscular Atrophy / complications
  • Muscular Atrophy / diagnosis
  • Muscular Atrophy / genetics*
  • Neuroacanthocytosis / complications
  • Neuroacanthocytosis / diagnosis
  • Neuroacanthocytosis / genetics*
  • Pedigree
  • Peripheral Nervous System Diseases / complications
  • Peripheral Nervous System Diseases / diagnosis
  • Peripheral Nervous System Diseases / genetics*

Substances

  • Amino Acid Transport Systems, Neutral
  • XK protein, human

Supplementary concepts

  • Neuroacanthocytosis, Mcleod Type