Yamamoto Clinic, Fukuoka, Japan.
Am J Med Sci. 2012 Mar;343(3):210-4. doi: 10.1097/MAJ.0b013e31822bdb65.
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.
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.
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.
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.
遗传性血管性水肿（HAE）的分子基础和临床特征尚未在日本或其他亚洲国家得到系统记录。因此，作者研究了日本 HAE 患者的遗传和临床特征。
作者通过聚合酶链反应和核苷酸测序分析了 13 名无血缘关系的日本 HAE 患者的 CIINH 基因突变。此外，作者还在 1969 年 1 月至 2010 年 10 月间检索了日本 HAE 患者的文献。
发现了 7 种新的突变，包括 4 种错义突变（8728T>G、8831C>A、16661T>G 和 16885C>A）、2 种移码突变（2281_2350del70、14158delT）和 1 种大片段缺失（至少包含外显子 4 的 1 kb 长度缺失），而 6 种突变在欧洲人群中已有报道。
尽管我们的样本量较小，并且鉴定出了 7 种新突变，但日本 HAE 患者的遗传和临床特征可能与西方患者相似。
