PMID: 16617246Apr 18, 2006Paper

Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Martin LaimerJohann W Bauer

Abstract

Sequences within the non-coding 3'UTR (untranslated region) of genes were reported to be involved in the regulation of gene expression by modifying pathways of (co)transcription, post-transcriptional processing and RNA transport. However, direct biological evidence (i.e., knock-out models) is sparse. This report intends to correlate the first reported alteration within the 3'UTR of the C1 inhibitor (C1-INH) gene with clinical presentation of hereditary angioedema (HAE). Direct sequencing of genomic DNA revealed in all affected members of a family suffering from HAE a heterozygous 155 bp deletion 100 bp downstream of the physiological stop-codon in exon 8. A substantial reduction of both mRNA as well as C1-INH protein expression was revealed by RT-PCR and nephelometry, respectively. We suppose that the mutation within the 3'UTR interferes with integral pathways of gene expression leading to pathogenic haploinsufficiency in this family.

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Jul 3, 2010·Paediatric Drugs·Didier G EboWim J Stevens
Jun 27, 2008·Virchows Archiv : an International Journal of Pathology·Annegret MüllerUNKNOWN German HNPCC Consortium, German Cancer Aid Deutsche Krebshilfe
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Jan 1, 2022·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Rocío López-MartínezPaula Toyos-González

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