title: Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people.
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.
authors.affiliation: Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Yamamoto
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan. ishiei@med.saga-u.ac.jp.
authors.forename: Eiichi
authors.initials: E
authors.lastname: Ishii
authors.affiliation: Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Hisanori
authors.initials: H
authors.lastname: Horiuchi
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Ikuyo
authors.initials: I
authors.lastname: Ueda
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Shouichi
authors.initials: S
authors.lastname: Ohga
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
authors.forename: Masanori
authors.initials: M
authors.lastname: Nishi
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
authors.forename: Yoshiyasu
authors.initials: Y
authors.lastname: Ogata
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Zaitsu
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Morimoto
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
authors.affiliation: Division of Pediatrics, Takasago Seibu Hospital, Takasago, Japan.
authors.forename: Shinsaku
authors.initials: S
authors.lastname: Imashuku
authors.affiliation: Research Institute, International Medical Center of Japan, Tokyo, Japan.
authors.forename: Takehiko
authors.initials: T
authors.lastname: Sasazuki
authors.affiliation: First Department of Internal Medicine, Ehime University, Ehime, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Yasukawa
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D007564:Japan; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D050765:Qa-SNARE Proteins / Q000235:genetics*; D050766:Qb-SNARE Proteins / Q000235:genetics*; D050767:Qc-SNARE Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D050765:Qa-SNARE Proteins; D050766:Qb-SNARE Proteins; D050767:Qc-SNARE Proteins; C100493:SNAP23 protein, human