A novel mutation of the McLeod syndrome gene in a Japanese family.
McLeod syndrome is a rare X-linked hematologic and neuromuscular disorder manifested by chorea, myopathy, cardiomyopathy, areflexia, hyperCKemia, and acanthocytosis. Only four mutations have been reported in the gene responsible for McLeod syndrome. We report a novel gene mutation in a Japanese family. Direct sequencing of the PCR-amplified genomic DNA revealed the mutation was a single C-nucleotide insertion at codon 151 in exon 2 of the XK gene, which resulted in a 3'-frameshift. Study of family members revealed that the patient's mother was a manifesting carrier heterozygous for this mutation.
Third Department of Internal Medicine, Oita Medical University, Hasama-machi, 879-5593, Oita, Japan.
H
H
Ueyama
T
T
Kumamoto
S
S
Nagao
T
T
Masuda
R
R
Sugihara
S
S
Fujimoto
T
T
Tsuda
D004252:DNA Mutational Analysis; D005260:Female; D006402:Hematologic Diseases / Q000235:genetics*; D006801:Humans; D007564:Japan; D007626:Kell Blood-Group System / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D009468:Neuromuscular Diseases / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism; D013577:Syndrome
D007626:Kell Blood-Group System; D012333:RNA, Messenger