TY - JOUR
T1 - Analysis of the McLeod syndrome gene in three patients with neuroacanthocytosis
AU - Shizuka, Masami
AU - Watanabe, Mitsunori
AU - Aoki, Masashi
AU - Ikeda, Yoshio
AU - Mizushima, Kazuyuki
AU - Okamoto, Koichi
AU - Itoyama, Yasuto
AU - Abe, Koji
AU - Shoji, Mikio
N1 - Funding Information:
This work was supported by the Sasakawa Health Science Foundation, the Life Science Foundation of Japan, the Longevity Science Committee, a Grant-in-Aid for Scientific Research (C) 06807055 and the Primary Amyloidosis Research Committee of the Ministry of Health and Welfare of Japan.
PY - 1997/9/10
Y1 - 1997/9/10
N2 - McLeod syndrome is a rare X-linked disorder involving neurological defects and acanthocytosis. We examined the XK gene in three patients with neuroacanthocytosis, one of whom had cardiomyopathy, and his symptoms were very similar to those of McLeod syndrome. We found two new transversions (C to G at codon 204 and G to C at codon 205) in exon 3 in all those cases. However, the transversion at codon 205 was found in all 70 Japanese normal subjects and four non-Japanese (two Caucasian males, one Chinese female and one Micronesian female) and that at codon 204 was also detected in all 14 normal Japanese males and the four non-Japanese. These findings suggest that they are not the cause of McLeod syndrome, but normal polymorphisms which have not been reported. Moreover, there is a possibility that patients with neuroacanthocytosis similar to McLeod syndrome exist without the XK gene abnormalities.
AB - McLeod syndrome is a rare X-linked disorder involving neurological defects and acanthocytosis. We examined the XK gene in three patients with neuroacanthocytosis, one of whom had cardiomyopathy, and his symptoms were very similar to those of McLeod syndrome. We found two new transversions (C to G at codon 204 and G to C at codon 205) in exon 3 in all those cases. However, the transversion at codon 205 was found in all 70 Japanese normal subjects and four non-Japanese (two Caucasian males, one Chinese female and one Micronesian female) and that at codon 204 was also detected in all 14 normal Japanese males and the four non-Japanese. These findings suggest that they are not the cause of McLeod syndrome, but normal polymorphisms which have not been reported. Moreover, there is a possibility that patients with neuroacanthocytosis similar to McLeod syndrome exist without the XK gene abnormalities.
KW - McLeod syndrome
KW - Neuroacanthocytosis
KW - XK gene
KW - XK protein
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U2 - 10.1016/S0022-510X(97)00067-1
DO - 10.1016/S0022-510X(97)00067-1
M3 - Article
C2 - 9268240
AN - SCOPUS:0030803992
SN - 0022-510X
VL - 150
SP - 133
EP - 135
JO - Journal of the neurological sciences
JF - Journal of the neurological sciences
IS - 2
ER -