Hereditary Angioedema in Japan: Genetic Analysis of 13 Unrelated Cases
Hereditary Angioedema in Japan: Genetic Analysis of 13 Unrelated Cases
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DOI：
10.1097/maj.0b013e31822bdb65
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发表时间：
2012-03-01
影响因子：
3.1
通讯作者：
Akashi, Koichi
中科院分区：
文献类型：
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作者：
Yamamoto, Tetsuro;Horiuchi, Takahiko;Akashi, Koichi
在日本或其他亚洲国家，遗传性血管性水肿（HAE）的分子基础和临床特征尚未有系统的文献记载。因此，作者研究了日本HAE患者的遗传和临床特征。方法：作者采用聚合酶链反应和核苷酸测序的方法分析了13例无血缘关系的日本HAE患者的CIINH基因突变。此外，作者检索了1969年1月至2010年10月日本HAE患者的文献。结果：发现的7个突变为新突变，包括4个错义突变（8728T b> G、8831C > A、16661T > G和16885C > A）、2个移码突变（2281_ 2350del70、14158delT）和1个大缺失（至少1 kb长度缺失，包括外显子4），而欧洲人群中已有6个突变被报道。结论：日本HAE患者的遗传和临床特征可能与西方患者相似，尽管我们的样本量很小，作者发现了7个新的突变。
Introduction: The molecular bases and clinical features of hereditary angioedema (HAE) have not been systematically documented in Japan or in other Asian countries. Thus, the authors researched the genetic and clinical characteristics of Japanese patients with HAE. Methods: The authors analyzed the CIINH gene for mutations in 13 unrelated Japanese patients with HAE by means of the polymerase chain reaction and nucleotide sequencing. In addition, the authors searched the literature from January 1969 to October 2010 on Japanese patients with HAE. Results: Seven of the mutations found were novel, including 4 missense mutations (8728T > G, 8831C > A, 16661T > G and 16885C > A), 2 frameshift mutations (2281_ 2350del70, 14158delT) and 1 large deletion (at least 1 kb-length deletion including exon 4), whereas 6 mutations had previously been reported in European populations. Conclusions: The genetic and clinical characteristics in Japanese patients with HAE may be similar to those in Western patients although our sample size is small and the authors identified 7 novel mutations.