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      Further Evidence That the CFTR Variant c.2620-6T>C Is Benign

      case-report
      Author(s): , *
      Publication date (Electronic):
      Journal: Case Reports in Genetics
      Publisher: Hindawi Publishing Corporation

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          Abstract

          The c.2620-6T>C variant in the CFTR gene is a rare variant about which little is known. We present an asymptomatic adult who has this variant as well as the well described delta F508 pathogenic variant in transpresentation. This patient provides additional evidence that this is a benign polymorphism.

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          CFTR: cystic fibrosis and beyond.

          Marcus Mall, Dominik Hartl (2014)
          Cystic fibrosis (CF) remains the most common fatal hereditary lung disease. The discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene 25 years ago set the stage for: 1) unravelling the molecular and cellular basis of CF lung disease; 2) the generation of animal models to study in vivo pathogenesis; and 3) the development of mutation-specific therapies that are now becoming available for a subgroup of patients with CF. This article highlights major advances in our understanding of how CFTR dysfunction causes chronic mucus obstruction, neutrophilic inflammation and bacterial infection in CF airways. Furthermore, we focus on recent breakthroughs and remaining challenges of novel therapies targeting the basic CF defect, and discuss the next steps to be taken to make disease-modifying therapies available to a larger group of patients with CF, including those carrying the most common mutation ΔF508-CFTR. Finally, we will summarise emerging evidence indicating that acquired CFTR dysfunction may be implicated in the pathogenesis of chronic obstructive pulmonary disease, suggesting that lessons learned from CF may be applicable to common airway diseases associated with mucus plugging. ©ERS 2014.
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            ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.

            (2011)
            In 2001, the American College of Obstetricians and Gynecologists and the American College of Medical Genetics introduced guidelines for prenatal and preconception carrier screening for cystic fibrosis. The American College of Obstetricians and Gynecologists' Committee on Genetics has updated current guidelines for cystic fibrosis screening practices among obstetrician-gynecologists.
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              Standards and Guidelines for CFTR Mutation Testing

              Carolyn Richards, Linda Bradley, Jean Amos … (2002)
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                Author and article information

                Journal
                Journal ID (nlm-ta): Case Rep Genet
                Journal ID (iso-abbrev): Case Rep Genet
                Journal ID (publisher-id): CRIG
                Title: Case Reports in Genetics
                Publisher: Hindawi Publishing Corporation
                ISSN (Print): 2090-6544
                ISSN (Electronic): 2090-6552
                Publication date (Print): 2017
                Publication date (Electronic): 9 January 2017
                Volume: 2017
                Electronic Location Identifier: 7281023
                Affiliations
                Hawai'i Community Genetics, Kapiolani Medical Center for Women and Children, 1319 Punahou Street, Honolulu, HI 98626, USA
                Author notes

                Academic Editor: Patrick Morrison

                Author information
                http://orcid.org/0000-0003-2102-7950
                Article
                DOI: 10.1155/2017/7281023
                PMC ID: 5253499
                SO-VID: 22c1b7b4-a4e9-42c8-adc2-53f645982f01
                Copyright © Copyright © 2017 V. I. Wallerstein and R. Wallerstein.
                License:

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 14 September 2016
                Date accepted : 1 December 2016
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Genetics
                Data availability:
                ScienceOpen disciplines: Genetics

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