A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis.
McLeod syndrome is an X-linked recessive disorder, characterized by neuromuscular and hematopoietic dysfunction. Two cases of McLeod syndrome were reported in a family with neuroacanthocytosis and, remarkably, 1 of them was female. Direct sequence analysis of the McLeod gene in 12 members of the family revealed a novel point mutation in exon 2 that creates a frameshift and results in premature termination of translation. There was marked skewing of X inactivation in the severely affected female.
Ho
M F
MF
Institute of Molecular Medicine, Imperial Cancer Research Fund, John Radcliffe Hospital, Oxford.
Chalmers
R M
RM
Davis
M B
MB
Harding
A E
AE
Monaco
A P
AP
D000050:Acanthocytes / Q000502:physiology*; D004303:Dosage Compensation, Genetic; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics; D005820:Genetic Testing; D006413:Hematopoietic System / Q000166:cytology / Q000503:physiopathology; D006801:Humans; D007626:Kell Blood-Group System / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009468:Neuromuscular Diseases / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA
D007626:Kell Blood-Group System