Identification of a Novel 5′ Alternative CFTR mRNA Isoform in a Patient with Nasal Polyposis and CFTR Mutations. Issue 7 (9th April 2014)

• Record Type: Journal Article
• Authors: Hinzpeter, Alexandre; de Becdelièvre, Alix; Bieth, Eric; Gameiro, Christine; Brémont, François; Martin, Natacha; Costes, Bruno; Costa, Catherine; Aissat, Abdel; Lorot, Aurélie; Prulière‐Escabasse, Virginie; Goossens, Michel; Fanen, Pascale; Girodon, Emmanuelle
• Is Part Of: Human mutation. Volume 35:Issue 7(2014:Jul.)
• Page Start: 805
• Page End: 808
• Publication Date: 2014-04-09
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22548
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22548-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>A novel 5' alternative <italic>CFTR</italic> transcript was identified in a 12y‐old patient presenting with isolated nasal polyposis and being heterozygous for c.2551C&gt;T (p.Arg851*). Its characterization was made after identification of the c.‐2954G&gt;A mutation which was shown to enhance promoter activity. The novel, presumably non‐functional, transcript could represent a novel molecular <italic>CFTR</italic> defect associated with CFTR‐related disorders. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pghmgm4wxk" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>