ArticleGenetics in medicine : official journal of the American College of Medical Genetics2006
Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 10 citations in OpenAlex.
- Identification of an elusiveFrontiers in allergy · 2025Article
- Review
- Hereditary angioedema in childhood: an approach to management.Paediatric drugs · 2010Review
- Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriers.Virchows Archiv : an international journal of pathology · 2008Article
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9 authors at 2 institutions in 1 country.
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Abstract
purposeSequences 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). METHODS AND
resultsDirect 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.
conclusionWe 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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