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12 results on '"Boissier, Brigitte"'

2. Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease

Author

Azad, Abul Kalam, Rauh, Robert, Vermeulen, François, Jaspers, Martine, Korbmacher, Judit, Boissier, Brigitte, Bassinet, Laurence, Fichou, Yann, des Georges, Marie, Stanke, Frauke, De Boeck, Kris, Dupont, Lieven, Balaščáková, Miroslava, Hjelte, Lena, Lebecque, Patrick, Radojkovic, Dragica, Castellani, Carlo, Schwartz, Marianne, Stuhrmann, Manfred, Schwarz, Martin, Skalicka, Veronika, de Monestrol, Isabelle, Girodon, Emmanuelle, Férec, Claude, Claustres, Mireille, Tümmler, Burkhard, Cassiman, Jean-Jacques, Korbmacher, Christoph, and Cuppens, Harry

Published
2009
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6. Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene

Author

Costa, Catherine, Costa, Jean-Marc, Martin, Josiane, Boissier, Brigitte, Goossens, Michel, Girodon, Emmanuelle, Institut Mondor de recherche biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Laboratoire de Biologie Moléculaire, Hôpital américain, and Guellaen, Georges

Subjects
MESH: Cystic Fibrosis Transmembrane Conductance Regulator, MESH: Humans, MESH: Introns, MESH: Alleles, MESH: Polymerase Chain Reaction, MESH: Haplotypes, (TG)m(T)n, T5 variant, haplotyping, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, CBAVD, CFTR, MESH: Spectrometry, Fluorescence
Abstract

International audience; BACKGROUND: Precise genotyping of the intron 8 poly(TG) and poly(T) tracts of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is of clinical relevance in CFTR pathology. The (TG)(m) locus influences the penetrance of the (T)(5) allele, which may be associated with male infertility by congenital bilateral absence of the vas deferens (CBAVD) or other CFTR-related disorders (CFTR-RD), in particular in the context of (TG)(12) and (TG)(13). Simple and accurate genotyping of both loci should thus be routinely offered in laboratories. METHODS: We designed a new single test method relying on multiplex allele-specific fluorescent PCR: (T)(5)-, (T)(7)-, and (T)(9)-specific primers, labeled with different fluorophores, in combination with a common primer. Each fluorescent PCR product was identified on a capillary sequencer by its fluorescence color, specific for (T)(n), and size, indicative of the (TG) length. We first validated the assay in 2 different laboratories on 52 DNA samples with already known genotypes. We then evaluated the method prospectively, compared with sequencing, on 62 samples from healthy individuals and 108 samples from patients with CBAVD or other CFTR-RDs. RESULTS: We observed a 100% match in both validation steps. Results found in CBAVD and CFTR-RD patients are in keeping with data in the literature. CONCLUSIONS: The assay proved to be simple, rapid, and accurate for single-test (TG)(m)(T)(n) genotyping and suited for analysis in clinical laboratories.

Published
2008
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7. Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease

Author

UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie, UCL - (SLuc) Centre de l'allergie, UCL - (SLuc) Service de pédiatrie générale, Azad, Abul Kalam, Rauh, Robert, Vermeulen, Francois, Jaspers, Martine, Korbmacher, Judit, Boissier, Brigitte, Bassinet, Laurence, Fichou, Yann, des Georges, Marie, Stanke, Frauke, De Boeck, Kris, Dupont, Lieven, Balascakova, Miroslava, Hjelte, Lena, Lebecque, Patrick, Radojkovic, Dragica, Castellani, Carlo, Schwartz, Marianne, Stuhrmann, Manfred, Schwarz, Martin, Skalicka, Veronika, de Monestrol, Isabelle, Girodon, Emmanuelle, Férec, Claude, Claustres, Mireille, Tummler, Burkhard, Cassiman, Jean-Jacques, Korbmacher, Christoph, Cuppens, Harry, UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie, UCL - (SLuc) Centre de l'allergie, UCL - (SLuc) Service de pédiatrie générale, Azad, Abul Kalam, Rauh, Robert, Vermeulen, Francois, Jaspers, Martine, Korbmacher, Judit, Boissier, Brigitte, Bassinet, Laurence, Fichou, Yann, des Georges, Marie, Stanke, Frauke, De Boeck, Kris, Dupont, Lieven, Balascakova, Miroslava, Hjelte, Lena, Lebecque, Patrick, Radojkovic, Dragica, Castellani, Carlo, Schwartz, Marianne, Stuhrmann, Manfred, Schwarz, Martin, Skalicka, Veronika, de Monestrol, Isabelle, Girodon, Emmanuelle, Férec, Claude, Claustres, Mireille, Tummler, Burkhard, Cassiman, Jean-Jacques, Korbmacher, Christoph, and Cuppens, Harry

Abstract

We investigated whether mutations in the genes that code for the different subunits of the amiloride-sensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)-like disease. In a small fraction of the patients, the disease could be potentially explained by an ENaC mutation by a Mendelian mechanism, such as p.V114I and p.F61L in SCNN1A. More importantly, a more than three-fold significant increase in incidence of several rare ENaC polymorphisms was found in the patient group (30% vs. 9% in controls), indicating an involvement of ENaC in some patients by a polygenetic mechanism. Specifically, a significantly higher number of patients carried c.-55+5G > C or p.W493R in SCNN1A in the heterozygous state, with odds ratios (ORs) of 13.5 and 2.7, respectively. The p.W493R-SCNN1A polymorphism was even found to result in a four-fold more active ENaC channel when heterologously expressed in Xenopus laevis oocytes. About I in 975 individuals in the general population will be heterozygous for the hyperactive p.W493R-SCNN1A mutation and a cystic fibrosis transmembrane conductance regulator (CFTR) gene that results in very low amounts (0-10%) functional CFTR. These ENaC/CFTR genotypes may play a hitherto unrecognized role in lung diseases. Hum Mutat 30:1093-1103, 2009. (C) 2009 Wiley-Liss, Inc.

Published
2009

8. Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy

Author

de Becdelièvre, Alix, primary, Costa, Catherine, additional, Jouannic, Jean-Marie, additional, LeFloch, Annick, additional, Giurgea, Irina, additional, Martin, Josiane, additional, Médina, Rachel, additional, Boissier, Brigitte, additional, Gameiro, Christine, additional, Muller, Françoise, additional, Goossens, Michel, additional, Alberti, Corinne, additional, and Girodon, Emmanuelle, additional

Published
2010
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9. Identification ofMEFV‐Independent Modifying Genetic Factors for Familial Mediterranean Fever

Author

Cazeneuve, Cecile, primary, Ajrapetyan, Hasmik, additional, Papin, Stephanie, additional, Roudot‐Thoraval, Francoise, additional, Genevieve, David, additional, Mndjoyan, Elizaveta, additional, Papazian, Marina, additional, Sarkisian, Ashot, additional, Babloyan, Ara, additional, Boissier, Brigitte, additional, Duquesnoy, Philippe, additional, Kouyoumdjian, Jean‐Claude, additional, Girodon‐Boulandet, Emmanuelle, additional, Grateau, Gilles, additional, Sarkisian, Tamara, additional, and Amselem, Serge, additional

Published
2000
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12. Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene.

Author

Costa C, Costa JM, Martin J, Boissier B, Goossens M, and Girodon E

Subjects
Haplotypes, Humans, Alleles, Cystic Fibrosis Transmembrane Conductance Regulator genetics, Introns genetics, Polymerase Chain Reaction methods, Spectrometry, Fluorescence methods
Abstract

Background: Precise genotyping of the intron 8 poly(TG) and poly(T) tracts of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is of clinical relevance in CFTR pathology. The (TG)(m) locus influences the penetrance of the (T)(5) allele, which may be associated with male infertility by congenital bilateral absence of the vas deferens (CBAVD) or other CFTR-related disorders (CFTR-RD), in particular in the context of (TG)(12) and (TG)(13). Simple and accurate genotyping of both loci should thus be routinely offered in laboratories., Methods: We designed a new single test method relying on multiplex allele-specific fluorescent PCR: (T)(5)-, (T)(7)-, and (T)(9)-specific primers, labeled with different fluorophores, in combination with a common primer. Each fluorescent PCR product was identified on a capillary sequencer by its fluorescence color, specific for (T)(n), and size, indicative of the (TG) length. We first validated the assay in 2 different laboratories on 52 DNA samples with already known genotypes. We then evaluated the method prospectively, compared with sequencing, on 62 samples from healthy individuals and 108 samples from patients with CBAVD or other CFTR-RDs., Results: We observed a 100% match in both validation steps. Results found in CBAVD and CFTR-RD patients are in keeping with data in the literature., Conclusions: The assay proved to be simple, rapid, and accurate for single-test (TG)(m)(T)(n) genotyping and suited for analysis in clinical laboratories.

Published
2008
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