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Hereditary angioedema caused by a point mutation of exon 7 in the C1 inhibitor gene.
- Source :
- British Journal of Dermatology; Apr1996, Vol. 134 Issue 4, p731-733, 3p
- Publication Year :
- 1996
-
Abstract
- Hereditary angioedema (HAE) is a genetic disease which may be detected serologically. We present a patient with HAE, in whom we examined the gene defect using the polymerase chain reaction. The patient presented with recurrent episodes of abdominal pain, or non-itchy swellings of the hands, feet, and penis, The serum levels of C1 inhibitor (C1-INH) and C4 were below normal. We determined that a single base change (C → T) at nucleotide 1482 in the seventh exon was present in the C1-INH gene. This mutation converted the codon for the Gln-339 to a premature translation termination codon TAG. A point mutation in the C1-INH gene can cause type I HAE. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00070963
- Volume :
- 134
- Issue :
- 4
- Database :
- Complementary Index
- Journal :
- British Journal of Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 14965974
- Full Text :
- https://doi.org/10.1111/j.1365-2133.1996.tb06980.x