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

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

Reproductive and Developmental Medicine

Research output: Contribution to journal › Article › peer-review

18 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 language	English
Pages (from-to)	600-603
Number of pages	4
Journal	Journal of Human Genetics
Volume	50
Issue number	11
DOIs	https://doi.org/10.1007/s10038-005-0293-1
Publication status	Published - Nov 2005

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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Yamamoto, K., Ishii, E., Horiuchi, H., Ueda, I., Ohga, S., Nishi, M., Ogata, Y., Zaitsu, M., Morimoto, A., Hara, T., Imashuku, S., Sasazuki, T., & Yasukawa, M. (2005). Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people. Journal of Human Genetics, 50(11), 600-603. https://doi.org/10.1007/s10038-005-0293-1

Yamamoto, K, Ishii, E, Horiuchi, H, Ueda, I, Ohga, S, Nishi, M, Ogata, Y, Zaitsu, M, Morimoto, A, Hara, T, Imashuku, S, Sasazuki, T & Yasukawa, M 2005, 'Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people', Journal of Human Genetics, vol. 50, no. 11, pp. 600-603. https://doi.org/10.1007/s10038-005-0293-1

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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.",

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

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doi = "10.1007/s10038-005-0293-1",

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T1 - Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people

AU - Yamamoto, Ken

AU - Ishii, Eiichi

AU - Horiuchi, Hisanori

AU - Ueda, Ikuyo

AU - Ohga, Shouichi

AU - Nishi, Masanori

AU - Ogata, Yoshiyasu

AU - Zaitsu, Masafumi

AU - Morimoto, Akira

AU - Hara, Toshiro

AU - Imashuku, Shinsaku

AU - Sasazuki, Takehiko

AU - Yasukawa, Masaki

PY - 2005/11

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N2 - 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.

AB - 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.

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

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