Anne Bergougnoux1, Victoria Viart1, Julie Miro2, Sébastien Bommart3, Nicolas Molinari4, Marie des Georges5, Mireille Claustres2, Raphaël Chiron6, Magali Taulan-Cadars7. 1. Laboratoire de Génétique Moléculaire, CHRU Montpellier, Montpellier F-34093, France; INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France. 2. INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France; Université Montpellier I, UFR de Médecine, Montpellier F-34000, France. 3. 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. 4. 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. 5. INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France. 6. Service des Maladies Respiratoires, CRCM, CHRU Montpellier, Montpellier F-34295, France. 7. 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.
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.
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: Marta Molina Romero; Alberto Yoldi Chaure; Miguel Gañán Parra; Purificación Navas Bastida; José Luis Del Pico Sánchez; Ángel Vaquero Argüelles; Paloma de la Fuente Vaquero; Juan Pablo Ramírez López; José Antonio Castilla Alcalá Journal: J Assist Reprod Genet Date: 2022-01-29 Impact factor: 3.412
Authors: Lisa J Strug; Tanja Gonska; Gengming He; Katherine Keenan; Wan Ip; Pierre-Yves Boëlle; Fan Lin; Naim Panjwani; Jiafen Gong; Weili Li; David Soave; Bowei Xiao; Elizabeth Tullis; Harvey Rabin; Michael D Parkins; April Price; Peter C Zuberbuhler; Harriet Corvol; Felix Ratjen; Lei Sun; Christine E Bear; Johanna M Rommens Journal: Hum Mol Genet Date: 2016-10-15 Impact factor: 6.150
Authors: Giovana B Bampi; Anabela S Ramalho; Leonardo A Santos; Johannes Wagner; Lieven Dupont; Harry Cuppens; Kris De Boeck; Zoya Ignatova Journal: Life (Basel) Date: 2020-12-27