Hereditary angioedema in Japan: genetic analysis of 13 unrelated cases
Tetsuro Yamamoto1, Takahiko Horiuchi, Hisaaki Miyahara
1Yamamoto Clinic, Fukuoka, Japan.
Insights
This study investigated hereditary angioedema (HAE) in Japanese patients, identifying seven novel mutations in the CIINH gene. Findings suggest potential similarities in HAE characteristics between Japanese and Western populations.
Area of Science:
- Genetics
- Immunology
- Rare Diseases
Background:
- Hereditary angioedema (HAE) molecular basis and clinical features are under-documented in Asia.
- Systematic research on Japanese HAE patients is lacking.
Purpose of the Study:
- To investigate the genetic and clinical characteristics of hereditary angioedema in Japanese patients.
- To identify novel mutations in the CIINH gene associated with HAE in Japan.
Main Methods:
- Analyzed the CIINH gene for mutations in 13 unrelated Japanese HAE patients.
- Utilized polymerase chain reaction and nucleotide sequencing.
- Conducted a literature review of Japanese HAE cases from 1969-2010.
Main Results:
- Identified seven novel CIINH gene mutations in Japanese HAE patients: 4 missense, 2 frameshift, and 1 large deletion.
- Six previously reported mutations found in European populations were also observed.
- Documented genetic and clinical data for Japanese HAE patients.
Conclusions:
- Japanese HAE patients exhibit genetic and clinical characteristics potentially similar to Western counterparts.
- Seven novel mutations were identified, expanding the known mutation landscape for HAE.
- Further research with larger sample sizes is warranted to confirm findings.
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.
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