Should diffuse bronchiectasis still be considered a CFTR-related disorder?

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
Anne BergougnouxMagali Taulan-Cadars

Abstract

Although several comprehensive studies have evaluated the role of the CFTR gene in idiopathic diffuse bronchiectasis (DB), it remains controversial. We analyzed the whole coding region of the CFTR gene, its flanking regions and the promoter in 47 DB patients and 47 controls. Available information about demographic, spirometric, radiological and microbiological data for the DB patients was collected. Unclassified CFTR variants were in vitro functionally assessed. CFTR variants were identified in 24 DB patients and in 27 controls. DB variants were reclassified based on the results of in silico predictive analyses, in vitro functional assays and data from epidemiological and literature databases. Except for the sweat test value, no clear genotype-phenotype correlation was observed. DB should not be considered a classical autosomal recessive CFTR-RD. Moreover, although further investigations are necessary, we proposed a new class of "Non-Neutral Variants" whose impact on lung disease requires more studies.

References

Feb 25, 2006·American Journal of Respiratory and Critical Care Medicine·André M CantinPeter Durie
Nov 18, 2008·American Journal of Respiratory Cell and Molecular Biology·Luc DannhofferThierry Chinet
Apr 3, 2009·Nucleic Acids Research·François-Olivier DesmetChristophe Béroud
Feb 20, 2010·American Journal of Respiratory and Critical Care Medicine·Thierry BienvenuIsabelle Fajac
Feb 23, 2010·Nature Genetics·Michael H ChoEdwin K Silverman
Jul 8, 2010·Human Mutation·Corinne BareilMireille Claustres
Aug 19, 2010·European Journal of Human Genetics : EJHG·Céline RenéMarie des Georges
Sep 24, 2010·The New England Journal of Medicine·Miriam F MoffattUNKNOWN GABRIEL Consortium
Aug 19, 2011·European Journal of Human Genetics : EJHG·Victoria ViartMagali Taulan
Oct 13, 2011·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Lucy A ClunesRobert Tarran
Jun 20, 2013·Pediatric Allergy, Immunology, and Pulmonology·Katarina MilosevicDragica Radojkovic
Sep 18, 2013·American Journal of Respiratory and Critical Care Medicine·S Vamsee RajuSteven M Rowe
Nov 26, 2013·Human Mutation·Naziha BakouhIsabelle Sermet-Gaudelus
Mar 25, 2014·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Frank J AccursoMelissa A Ashlock

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Citations

Nov 4, 2015·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Angela Schulz, Burkhard Tümmler
May 17, 2018·Lung·Jerome M Reich
Jun 20, 2020·European Respiratory Review : an Official Journal of the European Respiratory Society·Sheylan D PatelGeorge M Solomon
Feb 3, 2021·Pediatrics in Review·Alexander BowersJason Caboot
Mar 17, 2020·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·A PaginP-R Burgel
Dec 21, 2020·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Natacha MartinAlexandre Hinzpeter
Jul 15, 2021·Seminars in Respiratory and Critical Care Medicine·Holly R Keir, James D Chalmers

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