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.
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Acknowledgements
We thank all patients and their family members who participated in this study. We also wish to thank all members of the Japan FHL study group. This work was supported by a Grant-in-Aid for Scientific Research and a Grant from the 21st COE Program from the Ministry of Education, Culture, Sports, Science and Technology, Japan.
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Yamamoto, K., Ishii, E., Horiuchi, H. et al. Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people. J Hum Genet 50, 600–603 (2005). https://doi.org/10.1007/s10038-005-0293-1
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DOI: https://doi.org/10.1007/s10038-005-0293-1
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