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Inheritance Pattern of Hereditary Angioedema Indicates Mutation-Dependent Selective Effects During Early Embryonic
Konrad Bork1, Karin Wulff2, Günther Witzke1
1Department of Dermatology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
The Journal of Allergy and Clinical Immunology. in Practice
|December 10, 2021
Summary
Hereditary angioedema (HAE) shows sex-specific inheritance patterns, with fewer males than expected inheriting HAE mutations, particularly in hereditary angioedema with normal C1-INH (HAEnCI). This suggests early embryonic selection favoring males without the mutation.
Area of Science:
- Genetics
- Immunology
- Reproductive Biology
Background:
- Hereditary angioedema (HAE) results from C1-INH deficiency or mutations in F12, PLG, etc. (HAEnCI).
- Autosomal dominant inheritance is typical, but HAEnCI may affect more females.
Purpose of the Study:
- To investigate the inheritance patterns of HAE-specific mutations across generations.
- To analyze sex-specific transmission of HAE mutations in different HAE types.
Main Methods:
- Pedigree analysis and Sanger sequencing.
- Biochemical analysis of the kallikrein-kinin system.
- Statistical analysis of 1494 offspring from HAE mutation carriers.
Main Results:
- Fewer males than expected inherited HAE mutations, regardless of parental origin.
- This pattern was more pronounced in HAEnCI, with a significant loss of male embryos carrying HAE mutations.
- Observed deviations from expected autosomal dominant inheritance ratios.
Conclusions:
- Sex- and mutation-dependent embryonic selection occurs, favoring male wild-type and female mutant embryos.
- A significant proportion of male embryos with HAE mutations are lost, especially in HAEnCI.
- The kallikrein-kinin system may play a crucial role in early embryonic development.
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