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Human Nasal Epithelial Organoids for Therapeutic Development in Cystic Fibrosis
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Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges

Molecular Genetics Laboratory, Cochin Hospital, APHP.Centre–Université de Paris, 75014 Paris, France
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Genes 2020, 11(6), 619; https://doi.org/10.3390/genes11060619
Received: 9 May 2020 / Revised: 28 May 2020 / Accepted: 2 June 2020 / Published: 4 June 2020
(This article belongs to the Special Issue Molecular Basis and Gene Therapies of Cystic Fibrosis)
Identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its numerous variants opened the way to fantastic breakthroughs in diagnosis, research and treatment of cystic fibrosis (CF). The current and future challenges of molecular diagnosis of CF and CFTR-related disorders and of genetic counseling are here reviewed. Technological advances have enabled to make a diagnosis of CF with a sensitivity of 99% by using next generation sequencing in a single step. The detection of heretofore unidentified variants and ethnic-specific variants remains challenging, especially for newborn screening (NBS), CF carrier testing and genotype-guided therapy. Among the criteria for assessing the impact of variants, population genetics data are insufficiently taken into account and the penetrance of CF associated with CFTR variants remains poorly known. The huge diversity of diagnostic and genetic counseling indications for CFTR studies makes assessment of variant disease-liability critical. This is especially discussed in the perspective of wide genome analyses for NBS and CF carrier screening in the general population, as future challenges. View Full-Text
Keywords: cystic fibrosis; CFTR; CFTR-related disorders; molecular diagnosis; CFTR variants; Next Generation Sequencing (NGS); disease liability; interpretation; penetrance; genotype-guided therapy cystic fibrosis; CFTR; CFTR-related disorders; molecular diagnosis; CFTR variants; Next Generation Sequencing (NGS); disease liability; interpretation; penetrance; genotype-guided therapy
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MDPI and ACS Style

Bienvenu, T.; Lopez, M.; Girodon, E. Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges. Genes 2020, 11, 619. https://doi.org/10.3390/genes11060619

AMA Style

Bienvenu T, Lopez M, Girodon E. Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges. Genes. 2020; 11(6):619. https://doi.org/10.3390/genes11060619

Chicago/Turabian Style

Bienvenu, Thierry, Maureen Lopez, and Emmanuelle Girodon. 2020. "Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges" Genes 11, no. 6: 619. https://doi.org/10.3390/genes11060619

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