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

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)600-603
Number of pages4
JournalJournal of Human Genetics
Volume50
Issue number11
DOIs
Publication statusPublished - 2005 Nov
Externally publishedYes

Keywords

  • Cytotoxicity
  • Familial hemophagocytic lymphohistiocytosis
  • Infant
  • Japan
  • SNAP23
  • Syntaxin 11

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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