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.
Highlights
McLeod syndrome is a rare X-linked multisystemic disease caused by mutations in the XK gene, which is thought to encode for a membrane transporter [1]
The main initial finding was choreatiform tongue movements reported by the haematology unit that detected a weak expression of K red blood cell antigens, acanthocytosis, haemolysis, and a form of Factor IX deficiency when screening his blood type prior to a blood transfusion needed for a scheduled surgical procedure
McLeod syndrome belongs to the rare neuroacanthocytosis syndromes with approximately a few hundred cases worldwide [4]
Summary
McLeod syndrome is a rare X-linked multisystemic disease caused by mutations in the XK gene, which is thought to encode for a membrane transporter [1]. This rare syndrome together with autosomal recessive chorea-acanthocytosis forms the core of the neuroacanthocytosis syndromes, both featuring an estimated prevalence of less than 1–5/ 1,000,000 [2]. Entire or a significant part of the XK coding region, as well as small frameshift indels, and single nucleotide substitutions described as associated with the phenotype. Their common ground is the prediction of an absent or truncated, non-functional gene product [3]. We hereby present a patient with a novel XK frameshift mutation associated with a McLeod syndrome without signs of chronic granulomatous disease (CGD)
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