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

doi:10.1007/s10038-005-0293-1

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

J Hum Genet. 2005;50(11):600-603. doi: 10.1007/s10038-005-0293-1. Epub 2005 Sep 23.

Authors

Affiliations

¹ Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
² Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan. ishiei@med.saga-u.ac.jp.
³ Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
⁴ Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
⁵ Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
⁶ Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
⁷ Division of Pediatrics, Takasago Seibu Hospital, Takasago, Japan.
⁸ Research Institute, International Medical Center of Japan, Tokyo, Japan.
⁹ First Department of Internal Medicine, Ehime University, Ehime, Japan.

PMID: 16180048
DOI: 10.1007/s10038-005-0293-1

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.

Publication types

Comparative Study
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
DNA Mutational Analysis
DNA Primers
Female
Genetic Predisposition to Disease / genetics*
Humans
Infant
Japan
Lymphohistiocytosis, Hemophagocytic / genetics*
Male
Molecular Sequence Data
Qa-SNARE Proteins / genetics*
Qb-SNARE Proteins / genetics*
Qc-SNARE Proteins / genetics*
Sequence Analysis, DNA

Substances

DNA Primers
Qa-SNARE Proteins
Qb-SNARE Proteins
Qc-SNARE Proteins
SNAP23 protein, human

Associated data

RefSeq/NM_003764
RefSeq/NM_003825