CFTR -France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and genetic counseling challenging. We developed a patient-based database dedicated...

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Veröffentlicht in:Human mutation 2017-10, Vol.38 (10), p.1297-1315
Hauptverfasser: Claustres, Mireille, Thèze, Corinne, Des Georges, Marie, Baux, David, Girodon, Emmanuelle, Bienvenu, Thierry, Audrezet, Marie-Pierre, Dugueperoux, Ingrid, Férec, Claude, Lalau, Guy, Pagin, Adrien, Kitzis, Alain, Thoreau, Vincent, Gaston, Véronique, Bieth, Eric, Malinge, Marie-Claire, Reboul, Marie-Pierre, Fergelot, Patricia, Lemonnier, Lydie, Mekki, Chadia, Fanen, Pascale, Bergougnoux, Anne, Sasorith, Souphatta, Raynal, Caroline, Bareil, Corinne
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container_end_page 1315
container_issue 10
container_start_page 1297
container_title Human mutation
container_volume 38
creator Claustres, Mireille
Thèze, Corinne
Des Georges, Marie
Baux, David
Girodon, Emmanuelle
Bienvenu, Thierry
Audrezet, Marie-Pierre
Dugueperoux, Ingrid
Férec, Claude
Lalau, Guy
Pagin, Adrien
Kitzis, Alain
Thoreau, Vincent
Gaston, Véronique
Bieth, Eric
Malinge, Marie-Claire
Reboul, Marie-Pierre
Fergelot, Patricia
Lemonnier, Lydie
Mekki, Chadia
Fanen, Pascale
Bergougnoux, Anne
Sasorith, Souphatta
Raynal, Caroline
Bareil, Corinne
description Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and genetic counseling challenging. We developed a patient-based database dedicated to the annotations of rare CFTR variants in the context of their cis- and trans-allelic combinations. Based on almost 30 years of experience of CFTR testing, CFTR-France (https://cftr.iurc.montp.inserm.fr/cftr) currently compiles 16,819 variant records from 4,615 individuals with cystic fibrosis (CF) or CFTR-RD (related disorders), fetuses with ultrasound bowel anomalies, newborns awaiting clinical diagnosis, and asymptomatic compound heterozygotes. For each of the 736 different variants reported in the database, patient characteristics and genetic information (other variations in cis or in trans) have been thoroughly checked by a dedicated curator. Combining updated clinical, epidemiological, in silico, or in vitro functional data helps to the interpretation of unclassified and the reassessment of misclassified variants. This comprehensive CFTR database is now an invaluable tool for diagnostic laboratories gathering information on rare variants, especially in the context of genetic counseling, prenatal and preimplantation genetic diagnosis. CFTR-France is thus highly complementary to the international database CFTR2 focused so far on the most common CF-causing alleles.
doi_str_mv 10.1002/humu.23276
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subjects Alleles
Cystic Fibrosis / diagnosis
Cystic Fibrosis / genetics
Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Databases, Genetic
France
Genetic Counseling
Genetics
Human genetics
Humans
Infant, Newborn
Life Sciences
Mutation / genetics
Phenotype
title CFTR -France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants
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