Caroline Guittard

Polytech Lille

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Mireille Claustres

Université de Montpellier

Marie des Georges

Centre Hospitalier Universitaire de Nantes

M. des Georges

Centre Hospitalier Universitaire de Nantes

Carine Templin

Inserm

M. Claustres

Université de Montpellier

Marie Desgeorges

Inserm

J.P. Altiéri

Institut de Génétique Moléculaire de Montpellier

Soukeyna Carles

Université de Montpellier

Magali Taulan‐Cadars

Inserm

Jacques Demaille

Institut de Génétique Moléculaire de Montpellier

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105

Centre National de la Recherche Scientifique

Université de Montpellier

Centre Hospitalier Universitaire de Montpellier

Assistance Publique – Hôpitaux de Paris

Hôpital Arnaud de Villeneuve

Institut de Génétique Moléculaire de Montpellier

Université Paris Cité

Sorbonne Université

Institut Universitaire de Recherche Clinique

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UMD-CFTR: A database dedicated to CF and CFTR-related disorders

Human Mutation (2010)

Corinne Bareil C. Thèze Christophe Béroud Dalil Hamroun Caroline Guittard

With the increasing knowledge of cystic fibrosis (CF) and CFTR-related diseases (CFTR-RD), the number of sequence variations in the CFTR gene is constantly raising. CF and particularly CFTR-RD provide a particular challenge because of many unclassified variants and identical genotypes associated with different phenotypes. Using the Universal Mutation Database (UMD) software we have constructed UMD-CFTR (freely available at the URL: http://www.umd.be/CFTR/), the first comprehensive relational CFTR database that allows an in-depth analysis and annotation of all variations identified in individuals whose CFTR genes have been analyzed extensively. The system has been tested on the molecular data from 757 patients (540 CF and 217 CBAVD) including disease-causing, unclassified, and nonpathogenic alterations (301 different sequence variations) representing 3,973 entries. Tools are provided to assess the pathogenicity of mutations. UMD-CFTR also offers a number of query tools and graphical views providing instant access to the list of mutations, their frequencies, positions and predicted consequences, or correlations between genotypes, haplotypes, and phenotypes. UMD-CFTR offers a way to compile not only disease-causing genotypes but also haplotypes. It will help the CFTR scientific and medical communities to improve sequence variation interpretation, evaluate the putative influence of haplotypes on mutations, and correlate molecular data with phenotypes.

Sequence (biology)

10.1002/humu.21316

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P1.15 DNA micro-arrays for revisiting molecular pathology in neuromuscular disorders

Neuromuscular Disorders (2010)

Mireille Cossée Marc Bartoli Valérie Allamand Caroline Guittard Valérie Delague

Comparative genomic hybridization

genomic DNA

10.1016/j.nmd.2010.07.030

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Citations (1)

Preimplantation genetic diagnosis for cystic fibrosis

Journal of Cystic Fibrosis (2009)

C. Fernandez Caroline Guittard M. des Georges J.P. Altiéri Carine Templin

10.1016/s1569-1993(09)60068-0

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Genetic testing for cystic fibrosis: validation of the Elucigene® CF20kit in blood and mouthwash samples

Annales de biologie clinique (2001)

D Feldmann Caroline Guittard M. des Georges Claude Houdayer C. Magnier

Le diagnostic moleculaire de la mucoviscidose effectue en routine dans de nombreux laboratoires est delicat, en raison des nombreuses mutations du gene CFTR. Le kit Elucigene® CF20 developpe par Cellmark Diagnostics permet la detection simultanee des 20 mutations les plus frequentes dans les populations d'origine caucasienne en une journee et sans appareillage specifique. Le kit utilise la technologie ARMS (amplification refractory mutation system) et permet la detection de 68 a 92 % des alleles mutes des populations nord-europeennes. Une etude du kit a ete effectuee en aveugle et dans deux laboratoires distincts. Trente echantillons sanguins et trente prelevements de cellules buccales obtenus par lavage de bouche ont ete etudies. Les resultats ont ete compares a ceux obtenus par electrophorese en gradient denaturant et sequencage. Une amplification a ete obtenue au premier essai dans 98 % des echantillons. Les mutations analysees par le kit et presentes dans les echantillons ont ete, dans tous les cas, correctement identifiees. La reproductibilite s'est averee excellente. Une reaction croisee entre les mutations R117C et R117H, R117P et R117H, R347P et R347H, deltaI507 et deltaF508, G551D et R553X a ete etudiee. Seule une legere reaction croisee entre R347P et R347H a ete observee. Ce kit permettant d'obtenir des resultats fiables et rapides, est particulierement utile pour une premiere recherche des mutations les plus frequentes du gene CFTR.

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WS8.7 Preimplantation genetic diagnosis for cystic fibrosis using multiplex fluorescent PCR

Journal of Cystic Fibrosis (2012)

Anne Girardet Carine Templin Florielle Saguet Serge Plaza Caroline Guittard

Multiplex

10.1016/s1569-1993(12)60056-3

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Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities

Human Genetics (1997)

Marie Desgeorges André Mégarbané Caroline Guittard Soukeyna Carles Jacques Loiselet

ΔF508

Linkage Disequilibrium

10.1007/s004390050505

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Citations (62)

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene

European Journal of Human Genetics (2004)

G. Modiano Cristina Bombieri Bianca Maria Ciminelli Francesca Belpinati Silvia Giorgi

Sequence (biology)

Coding region

10.1038/sj.ejhg.5201306

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Citations (18)

First reportofCFTR mutations inblackcystic fibrosis patients ofsouthern African origin

Marie Desgeorges Rochelle Thiart Caroline Guittard Jih‐Luh Tang Mireille Claustres

Cystic fibrosis (CF)isthought toberare intheblackpopulations ofAfricawho haveminimalwhiteadmixture. Onlyafew caseshavebeenreported buthavenot beenstudied atthemolecular level. We report thedetection ofCFTR mutations in threesouthernAfricanblackpatients. One was homozygousforthe3120+ 1G-*Amutation, whiletheothertwowere compoundheterozygotes eachwiththis mutation ononechromosome. Theother mutations wereG1249Eandapreviously unreported inframe54bpdeletion within exon17ainvolving nucleotides 3196-3249 (3196del54). The 3120+ 1G->Amutation was firstdescribed inAmericanblack patients andhasbeenshowntobeacommon mutation inthispopulation (9-14% of CF chromosomes). Itwasalsofoundina blackCF patient whose father, the 3120+ 1G-4Acarrier, isfromCameroon. Thesedatasuggestthatitisan old mutation whichaccounts formanyofthe CFTR mutations inAfrican blacks. (7MedGenet1996;33:802-804)

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12 Rapid and reliable analysis of the CFTR locus in CBAVD patients

Journal of Cystic Fibrosis (2006)

M. des Georges Caroline Guittard J.P. Altiéri Carine Templin Corinne Bareil

10.1016/s1569-1993(06)80013-5

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359 Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements

Journal of Cystic Fibrosis (2007)

Caroline Guittard J.P. Altiéri Carine Templin Nathalie Stremler Christophe Béroud

Compound heterozygosity

10.1016/s1569-1993(07)60329-4

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Citations (5)