Gross genomic rearrangements involving deletions in the CFTR gene : characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
- Author
- FEREC, Claude1 2 3 4 ; CASALS, Teresa5 ; SHERIDAN, Molly12 ; PANTALEO, Sarah-Jane13 ; LOUMI, Ourida14 ; MESSAOUD, Taieb15 ; CUPPENS, Harry16 ; TORRICELLI, Francesca17 ; CUTTING, Garry R12 ; WILLIAMSON, Robert18 ; RAMOS, Maria Jesus Alonso19 ; PIGNATTI, Pier Franco20 ; CHUZHANOVA, Nadia6 ; RAGUENES, Odile1 4 ; COOPER, David N21 ; AUDREZET, Marie-Pierre1 4 ; CHEN, Jian-Min1 2 3 ; MACEK, Milan7 ; BIENVENU, Thierry8 ; HOLUBOVA, Andrea7 ; KING, Caitriona9 ; MCDEVITT, Trudi9 ; CASTELLANI, Carlo10 ; FARRELL, Philip M11
[1] INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique), Brest, France
[2] Université de Bretagne Occidentale, Faculté de Médecine de Brest et des Sciences de la Santé, Brest, France
[3] Etablissement Français du Sang - Bretagne, Brest, France
[4] CHRU Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Brest, France
[5] Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, Barcelona, Spain
[6] Biostatistics and Bioinformatics Unit, Cardiff University, Cardiff, United Kingdom
[7] Institute of Biology and Medical Genetics-Cystic Fibrosis Center, Charles University, Prague, Czech Republic
[8] Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Paris, France
[9] National Centre for Medical Genetics and Department of Paediatrics, University College Dublin, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland
[10] Cystic Fibrosis Centre, Azienda Ospedaliera di Verona, Verona, Italy
[11] Department of Pediatrics, University of Wisconsin Medical School, Madison, WI, United States
[12] Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States
[13] Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Australia
[14] Faculté des Sciences Biologiques, Bab-Ezzouar Institut de Biologie, Université des Sciences et de la Technologie, Alger, Algeria
[15] Laboratoire de Biochimie, Clinique-Hopital d'Enfants, Tunis, Tunisia
[16] Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium
[17] Unita' Operativa Citogenetica e Genetica, Azienda Ospedaliera Careggi, Florence, Italy
[18] Murdoch Children's Research Institute, Parkville, Australia
[19] Laboratorio de Genética-B2-IBGM, Instituto de Biologia y Genética Molecular, Valladolid, Spain
[20] Section of Biology and Genetics, University of Verona, Verona, Italy
[21] Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom - Source
European journal of human genetics. 2006, Vol 14, Num 5, pp 567-576, 10 p ; ref : 44 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- CFTR breakpoint deletion gross genomic rearrangements mutation mutational mechanisms
- Keyword (fr)
- Caractérisation Cassure chromosomique Chromosome Délétion Etiologie Etude cohorte Gène Génomique Génétique Mucoviscidose Mutation Mécanisme Métaanalyse Point cassure Régulateur conductance transmembranaire mucoviscidose Appareil digestif pathologie Appareil respiratoire pathologie Maladie héréditaire Métabolisme pathologie Pancréas pathologie
- Keyword (en)
- Characterization Chromosome break Chromosome Deletion Etiology Cohort study Gene Genomics Genetics Cystic fibrosis Mutation Mechanism Metaanalysis Breakpoint Cystic fibrosis transmembrane conductance regulator Digestive diseases Respiratory disease Genetic disease Metabolic diseases Pancreatic disease
- Keyword (es)
- Caracterización Ruptura cromosómica Cromosoma Deleción Etiología Estudio cohorte Gen Genómica Genética Mucoviscidosis Mutación Mecanismo Meta-análisis Punto ruptura Regulator conductancia transmembrana mucoviscidosis Aparato digestivo patología Aparato respiratorio patología Enfermedad hereditaria Metabolismo patología Páncreas patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D05 Miscellaneous hereditary metabolic disorders
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations
- Discipline
- Medical genetics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17693606
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/sj.ejhg.5201590 
https://dx.doi.org/10.1038/sj.ejhg.5201590
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