Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people.
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.
Yamamoto
Ken
K
Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
Ishii
Eiichi
E
Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan. ishiei@med.saga-u.ac.jp.
Horiuchi
Hisanori
H
Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Ueda
Ikuyo
I
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Ohga
Shouichi
S
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Nishi
Masanori
M
Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
Ogata
Yoshiyasu
Y
Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
Zaitsu
Masafumi
M
Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
Morimoto
Akira
A
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Hara
Toshiro
T
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Imashuku
Shinsaku
S
Division of Pediatrics, Takasago Seibu Hospital, Takasago, Japan.
Sasazuki
Takehiko
T
Research Institute, International Medical Center of Japan, Tokyo, Japan.
Yasukawa
Masaki
M
First Department of Internal Medicine, Ehime University, Ehime, Japan.
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
D017931:DNA Primers; D050765:Qa-SNARE Proteins; D050766:Qb-SNARE Proteins; D050767:Qc-SNARE Proteins; C100493:SNAP23 protein, human