Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema

Human Mutation
Tomás FreibergerJirí Litzman

Abstract

Hereditary angioedema (HAE) is a disorder characterised by recurrent attacks of localized subcutaneous or submucosal edema. It is inherited in an autosomal dominant fashion and caused by a deficiency of C1 inhibitor (C1 inh, or C1NH). Most patients with HAE have an absolute deficiency of C1 inh (type I HAE) while the rest (15% of kindreds) synthetize a dysfunctional C1 inh protein (type II HAE). In this report a novel use of denaturing gradient gel electrophoresis (DGGE) followed by direct sequencing of the C1 inhibitor gene is presented. Five novel mutations, one nonsense (p.S48X) and four small deletions resulting in frameshifts (g.2264-2265delAG, g.2304delC, g.8493-8494delCC and g.16676-16677delTG) have been identified in the C1 inhibitor gene in five families with type I HAE. All of these mutations lead to premature termination of translation and thus can be considered causative of the C1 inh deficiency. Moreover, two previously described mutations in the reactive center of C1 inh, p.R444C and p.R444H, have been detected in four unrelated patients with type II HAE.

Citations

Jan 19, 2010·Proceedings of the National Academy of Sciences of the United States of America·Erica Bree RosenblumHopi E Hoekstra
Jul 14, 2006·Mayo Clinic Proceedings·Catherine R Weiler, Richard G van Dellen
Jun 10, 2015·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Joshua D Schiffman, Matthew Breen
Jul 2, 2014·BioMed Research International·Hui-Han HuNadem Soufir
Jan 27, 2020·Journal of Clinical Immunology·Pavla HujováTomáš Freiberger
Nov 22, 2020·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Ankur K JindalSurjit Singh
Mar 18, 2020·Genes & Diseases·Aaqib Zaffar BandaySurjit Singh

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