Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people

Ken Yamamoto, Eiichi Ishii, Hisanori Horiuchi, Ikuyo Ueda, Shouichi Ohga, Masanori Nishi, Yoshiyasu Ogata, Masafumi Zaitsu, Akira Morimoto, Toshiro Hara, Shinsaku Imashuku, Takehiko Sasazuki, Masaki Yasukawa

研究成果: Contribution to journalArticle査読

17 被引用数 (Scopus)

抄録

Although mutations of perforin, MUNC13-4 and syntaxin 11 genes have been found in children with familial hemophagocytic lymphohistiocytosis (FHL), the incidence of each genetic subtype varies in different ethnic groups. We evaluated mutations of syntaxin 11 and SNAP23 genes in 30 Japanese FHL patients. The patients had no mutations and 10% had one polymorphism (146G>A) of syntaxin 11, while no mutation of SNAP23 was observed. Our results indicate that aberrations in the SNARE system may not cause FHL in Japanese families.

本文言語英語
ページ(範囲)600-603
ページ数4
ジャーナルJournal of Human Genetics
50
11
DOI
出版ステータス出版済み - 11 2005

All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)

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