Analysis of the McLeod syndrome gene in three patients with neuroacanthocytosis

Masami Shizuka, Mitsunori Watanabe, Masashi Aoki, Yoshio Ikeda, Kazuyuki Mizushima, Koichi Okamoto, Yasuto Itoyama, Koji Abe, Mikio Shoji

研究成果査読

9 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)133-135
ページ数3
ジャーナルJournal of the neurological sciences
150
2
DOI
出版ステータスPublished - 9月 10 1997
外部発表はい

ASJC Scopus subject areas

  • 神経学
  • 臨床神経学

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