McLeod syndrome resulting from a novel XK mutation
نویسندگان
چکیده
منابع مشابه
Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome.
BACKGROUND McLeod syndrome (MLS) is hematologically defined by the absence of the red blood cell (RBC) antigen Kx on the transmembrane RBC protein, XK, representing a highly specific diagnostic marker. Direct molecular assessment of XK therefore represents a desirable diagnostic tool. Whereas pathogenic point mutations may be simply identified, partial and complete deletions of XK on Xp21.1, ev...
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The X-linked McLeod syndrome is defined by absent Kx red blood cell antigen and weak expression of Kell antigens, and this constellation may be accidentally detected in routine screening of apparently healthy blood donors. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurological disorder resem...
متن کاملGene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus.
In a patient suffering from X-linked chronic granulomatous disease (X-CGD)--a disorder of phagocytesuperoxide generation--and McLeod syndrome, characterized by the absence of the red cell Kell antigen, we identified a deletion of the entire X-CGD gene by means of DNA hybridization with a cDNA probe. Our findings suggest that the X-CGD and McLeod loci are physically close in the p21 region of th...
متن کاملNovel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis
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 h...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2003
ISSN: 0007-1048
DOI: 10.1046/j.1365-2141.2003.04474.x