Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema
Copyright © 2013 Elsevier Inc. All rights reserved.
| Publié dans: | Clinical immunology (Orlando, Fla.). - 1999. - 150(2014), 2 vom: 09. Feb., Seite 143-8 |
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| Auteur principal: | |
| Autres auteurs: | , , , , |
| Format: | Article en ligne |
| Langue: | English |
| Publié: |
2014
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| Accès à la collection: | Clinical immunology (Orlando, Fla.) |
| Sujets: | Case Reports Journal Article Research Support, Non-U.S. Gov't C1-inhibitor; Hereditary angioedema; Immunodeficiency; Mutation; SERPING1; Splicing Complement C1 Inactivator Proteins plus... |
| Résumé: | Copyright © 2013 Elsevier Inc. All rights reserved. Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH) is a rare autosomal-dominant disease caused by mutations in SERPING1 gene. The main clinical feature of C1INH deficiency is the spontaneous edema of the subcutaneous and submucosal layers. More than 280 different mutations scattering the entire SERPING1 gene have been reported. We identified and characterized a new mutation in SERPING1 gene in a Spanish family with hereditary angioedema. The mutation (c.685 + 2 T > A) disrupts the donor splice site of intron 4 leading to the loss of exon 4 in mutant mRNA. We demonstrated that mutant mRNA is mostly degraded, probably by the surveillance pathway no-go mRNA decay. Bioinformatic analysis showed that the mutant protein, if produced, would be non-functional since the protein lacks a stretch of 45 amino acids affecting the functional RCL loop. Finally, we found a reduction of the wild-type mRNA expression in c.685 + 2 T > A carriers |
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| Description: | Date Completed 08.04.2014 Date Revised 16.11.2017 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 1521-7035 |
| DOI: | 10.1016/j.clim.2013.11.013 |