title: Should diffuse bronchiectasis still be considered a CFTR-related disorder?
abstract: BACKGROUND
  Although several comprehensive studies have evaluated the role of the CFTR gene in idiopathic diffuse bronchiectasis (DB), it remains controversial.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors: Laboratoire de Génétique Moléculaire, CHRU Montpellier, Montpellier F-34093, France; INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France.
authors: Anne
authors: A
authors: Bergougnoux
authors: Laboratoire de Génétique Moléculaire, CHRU Montpellier, Montpellier F-34093, France; INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France.
authors: Victoria
authors: V
authors: Viart
authors: INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France; Université Montpellier I, UFR de Médecine, Montpellier F-34000, France.
authors: Julie
authors: J
authors: Miro
authors: Université Montpellier I, UFR de Médecine, Montpellier F-34000, France; Radiology department, CHRU Montpellier, Montpellier F-34093, France; INSERM U1046, Physiologie & médecine expérimentale du Cœur et des Muscles, Montpellier, France.
authors: Sébastien
authors: S
authors: Bommart
authors: Université Montpellier I, UFR de Médecine, Montpellier F-34000, France; INSERM U1046, Physiologie & médecine expérimentale du Cœur et des Muscles, Montpellier, France; Service DIM, CHRU Montpellier, Montpellier F-34093, France.
authors: Nicolas
authors: N
authors: Molinari
authors: INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France.
authors: Marie
authors: M
authors: des Georges
authors: INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France; Université Montpellier I, UFR de Médecine, Montpellier F-34000, France.
authors: Mireille
authors: M
authors: Claustres
authors: Service des Maladies Respiratoires, CRCM, CHRU Montpellier, Montpellier F-34295, France.
authors: Raphaël
authors: R
authors: Chiron
authors: INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France; Université Montpellier I, UFR de Médecine, Montpellier F-34000, France. Electronic address: magali.taulan@inserm.fr.
authors: Magali
authors: M
authors: Taulan-Cadars
mesh_terms: D000328:Adult; D015153:Blotting, Western; D001987:Bronchiectasis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D002460:Cell Line; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005602:France / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D008168:Lung / Q000473:pathology; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA
keywords: CFTR gene; Diffuse bronchiectasis; Functional analysis; Variants classification