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6 results on '"MESH : Genetic Screening"'

1. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Author

Frédéric Huet, Peter N. Robinson, Guillaume Jondeau, Karin Mayer, Claire Bonithon-Kopp, Bertrand Chevallier, Uta Francke, Elodie Gautier, Laurence Faivre, Anne H. Child, Anatoli Kiotsekoglou, Christophe Béroud, Mireille Claustres, Bart Loeys, Maurizia Grasso, Gwenaëlle Collod-Béroud, Mine Arslan-Kirchner, Christine Binquet, Alice Masurel-Paulet, Catherine Boileau, Eloisa Arbustini, Julie De Backer, Anne De Paepe, Lesley C. Adès, Bert Callewaert, Dorothy Halliday, P Comeglio, Paul Coucke, Chantal Stheneur, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques (CIC-EC), Université de Bourgogne (UB)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Center for Medical Genetics [Ghent], Ghent University Hospital, Department of Cardiological Sciences, St George's Hospital, Service de pédiatrie, urgences enfants [CHU Ambroise-Paré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Howard Hughes Medical Institute (HHMI), Centre for Inherited Cardiovacular Diseases, Foundation IRCCS Policlinico San Matteo, Center for Human Genetics and Laboratory Medicine, Center of Human Genetics and Laboratory Medicine, Institut für Humagenetik, Hannover Medical School [Hannover] (MHH)-Institut für Humagenetik, Department of Biochemistry [Oxford], University of Oxford [Oxford], Institut für Medizinische Genetik, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Discipline of Paediatrics and Child Health, The University of Sydney, Marfan Research Group, Westmead Hospital [Sydney], Department of Clinical Genetics, Department of Genetics [Stanford], Stanford Medicine, Stanford University-Stanford University, Service de biochimie, d'hormonologie et de génétique moléculaire [CHU Amrboise Paré], Consultation Marfan, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bichat, Service de cardiologie, Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This work was supported by a grant from the French Ministry of Health (grant Programme Hospitalier de Recherche Clinique 2004), Groupement d’Intérêt Scientifique Maladies Rares 2004, Bourse de la Société Francaise de Cardiologie, Fédération Franc¸aise de Cardiologie 2005, and ANR-05-PCOD-014. Drs Callewaert and Loeys are a research fellow and a senior clinical investigator, respectively, of the Fund for Scientific ResearchFlanders. Drs Child and Comeglio thank the Marfan Trust and the Bluff Field Charitable Fund for support., Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), COLLOD-BEROUD, Gwenaëlle, Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), University of Oxford, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques ( CIC-EC ), Université de Bourgogne ( UB ) -Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques, Université Montpellier 1 ( UM1 ) -IFR3-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Montpellier ( UM ), Service de pédiatrie, urgences enfants, Université de Versailles Saint-Quentin-en-Yvelines ( UVSQ ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Ambroise Paré, Institute of Genetic Medicine and the Howard Hugues Medical Institute, Johns Hopkins University School of Medicine, Hannover Medical School [Hannover] ( MHH ) -Institut für Humagenetik, Universitätsmedizin Charité, The University of Sydney [Sydney], The Children's Hospital at Westmead, Department of Genetics and Pediatrics, Stanford University [Stanford], Service de biochimie, d'hormonologie et de génétique moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bichat, and Assistance publique - Hôpitaux de Paris (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Université Paris Diderot - Paris 7 ( UPD7 )

Subjects
Male, Proband, Marfan syndrome, Pediatrics, CI— confidence interval, Fibrillin-1, [SDV.GEN] Life Sciences [q-bio]/Genetics, 030204 cardiovascular system & hematology, MESH : Child, Preschool, PTC—premature termination codon, AAD—ascending aortic dilation, 0302 clinical medicine, MESH: Genetic Screening, MESH : Child, MESH: Child, Medicine, MESH : Female, Family history, Child, Ectopia lentis, Aortic dissection, education.field_of_study, Dural ectasia, Microfilament Proteins, MESH: Follow-Up Studies, Connective tissue disease, 3. Good health, MFS—Marfan syndrome, Child, Preschool, Female, MESH : Mutation, musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, MESH: Mutation, Adolescent, MESH : Microfilament Proteins, Abbreviations, MESH : Male, Population, Fibrillins, MESH: Marfan Syndrome, 03 medical and health sciences, MESH: Microfilament Proteins, MESH : Adolescent, Humans, Genetic Testing, FBN1, education, childhood, MESH : Genetic Screening, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH : Marfan Syndrome, MESH: Humans, business.industry, MESH : Humans, MESH: Child, Preschool, MESH : Follow-Up Studies, medicine.disease, EL— ectopia lentis, MESH: Male, Surgery, Mutation, Pediatrics, Perinatology and Child Health, international criteria, business, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, MESH: Female, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract

From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients

Published
2009

2. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation

Author

Michel Fardeau, Akiko Yanagisawa, C. Bouchet, Jean-Marie Cuisset, F. Leturcq, Pascale Guicheney, Susana Quijano-Roy, Norma B. Romero, P. Van den Bergh, Nathalie Seta, Louis Viollet, Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Biochimie Métabolique et Cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de neurologie, Université Catholique de Louvain = Catholic University of Louvain (UCL), Maladies Neuromusculaires de l'Enfant, Hôpital Roger Salengro [Lille], Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biochimie et Génétique Moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de pédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], Guicheney, Pascale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -IFR14-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Université Catholique de Louvain ( UCL ), Hôpital Roger Salengro, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], CHU Pitié-Salpêtrière [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP)-AP-HP Hôpital Raymond Poincaré [Garches]

Subjects
Male, Microcephaly, Pathology, DNA Mutational Analysis, MESH : Muscle Weakness, MESH: Mannosyltransferases, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH: Genetic Markers, MESH: Founder Effect, Compound heterozygosity, medicine.disease_cause, Mannosyltransferases, Muscular Dystrophies, MESH : Muscular Dystrophies, 0302 clinical medicine, MESH: Genetic Screening, Gene Frequency, MESH : Child, MESH : Microcephaly, MESH: Child, MESH: Mental Retardation, MESH : Genetic Markers, Medicine, MESH : Female, MESH : Gene Frequency, MESH : Atrophy, Muscular dystrophy, MESH: DNA Mutational Analysis, Child, Dystroglycans, MESH : Muscle, Skeletal, Genetics, 0303 health sciences, Mutation, MESH: Muscle, Skeletal, Muscle Weakness, MESH : Mannosyltransferases, MESH: Genetic Predisposition to Disease, Brain, MESH: Muscle Weakness, MESH : Adult, MESH: Dystroglycans, Founder Effect, 3. Good health, Congenital muscular dystrophy, Female, MESH : Mutation, medicine.symptom, Adult, Genetic Markers, medicine.medical_specialty, MESH: Mutation, Adolescent, MESH : Male, MESH : Founder Effect, MESH : Dystroglycans, MESH : DNA Mutational Analysis, MESH: Atrophy, MESH: Microcephaly, 03 medical and health sciences, MESH: Brain, Intellectual Disability, MESH : Adolescent, MESH: Gene Frequency, Humans, Genetic Predisposition to Disease, Genetic Testing, MESH : Mental Retardation, Muscle, Skeletal, MESH : Haplotypes, Gene, 030304 developmental biology, MESH : Genetic Screening, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, business.industry, MESH : Humans, Haplotype, fungi, Muscle weakness, MESH: Adult, MESH: Haplotypes, medicine.disease, MESH: Muscular Dystrophies, MESH: Male, Haplotypes, MESH : Brain, MESH : Genetic Predisposition to Disease, Neurology (clinical), Atrophy, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, business, MESH: Female, 030217 neurology & neurosurgery
Abstract

International audience; BACKGROUND: Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) with autosomal recessive inheritance, often associated with CNS and ocular involvement. They are characterized by the abnormal glycosylation of alpha-dystroglycan, and caused by mutations in at least six genes encoding enzymes: FKTN, POMGNT1, POMT1, POMT2, FKRP, and LARGE. POMT2 mutations have recently been identified in Walker-Warburg syndrome and in a milder muscle-eye-brain disease-like form. METHODS: We studied mentally retarded patients with CMD, analyzed POMT2 by sequencing the coding regions, and also performed a haplotype analysis in all patients and their family members carrying the new POMT2 mutation. RESULTS: We report three novel POMT2 mutations. One of these, p.Tyr666Cys, was homozygous in two unrelated patients and in a compound heterozygous state in others. All patients showed severe diffuse muscle weakness, microcephaly, severe mental retardation, and marked lordoscoliosis with hyperextended head. Elevated CK levels, cerebral cortical atrophy, and cerebellar vermis hypoplasia were constant findings. Mild cardiac abnormalities, focal white matter abnormalities, or partial corpus callosum hypoplasia were detected in single cases. Eye involvement was absent or mild. By genotype analysis, we defined a distinct 170kb haplotype encompassing POMT2 and shared by all the subjects harboring the mutation p.Tyr666Cys. CONCLUSIONS: Our results broaden the clinical spectrum associated with POMT2 mutations, which should be considered in patients with CMD associated with microcephaly, and severe mental retardation with or without ocular involvement.

Published
2007

3. Evidence for linkage of a new region (11p14) to eczema and allergic diseases

Author

Jocelyne Just, Evelyne Paty, Marie-Hélène Dizier, Jean Bousquet, Isabella Annesi-Maesano, Régis Matran, Arnaud Lemainque, Frédéric Gormand, Florence Demenais, J Hochez, Denis Charpin, Françoise Neukirch, Nicole Le Moual, Isabelle Pin, Marie-Pierre Oryszczyn, Michel Guilloud-Bataille, Emmanuelle Bouzigon, Francine Kauffmann, Mark Lathrop, Daniel Vervloet, Génétique épidémiologique et structures des populations humaines ( Inserm U535 ), Epidémiologie, sciences sociales, santé publique ( IFR 69 ), Université Panthéon-Sorbonne ( UP1 ) -Université Paris-Sud - Paris 11 ( UP11 ) -École des hautes études en sciences sociales ( EHESS ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Panthéon-Sorbonne ( UP1 ) -Université Paris-Sud - Paris 11 ( UP11 ) -École des hautes études en sciences sociales ( EHESS ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Recherche en épidémiologie et biostatistique, Université Paris-Sud - Paris 11 ( UP11 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Méthodologie statistique et épidémiologie génétique de maladies multifactorielles, Université d'Évry-Val-d'Essonne ( UEVE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Epidémiologie des maladies infectieuses et modélisation ( ESIM ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Immunopathologie de l'Inflammation, Université Montpellier 1 ( UM1 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de pneumologie-allergologie, Assistance Publique - Hôpitaux de Marseille ( APHM ) -Hôpital nord, Service de pneumologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] ( CHLS ), Hospices Civils de Lyon ( HCL ) -Hospices Civils de Lyon ( HCL ), Modélisation mathématique et statistique en biologie et médecine, Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre de l'asthme et de l'allergologie, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Centre National de Génotypage ( CNG ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Laboratoire d'Exploration Fonctionnelle, Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Mécanismes physiopathologiques de l'insuffisance respiratoire et des complications de l'anesthésie, Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de Pneumologie Allergologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Département de médecine aiguë spécialisée, CHU Grenoble-Hôpital Michallon, Service de Pneumo-Allergologie, Assistance Publique - Hôpitaux de Marseille ( APHM ) -Hôpital Sainte-Marguerite [CHU - APHM] ( Hôpitaux Sud ), This work was partly supported by EU Framework Programme for Research, contract no. FOOD-CT-2004-506378, the GA2LEN project, Global Allergy and Asthma European Network., Faraldo, Beatrice, Génétique épidémiologique et structures des populations humaines (Inserm U535), Epidémiologie, sciences sociales, santé publique (IFR 69), Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Epidémiologie des maladies infectieuses et modélisation (ESIM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital nord, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud ), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Assistance Publique - Hôpitaux de Marseille (APHM), CHU Necker - Enfants Malades [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
Male, Allergy, Genetic Linkage, Eczema, Disease, MESH: Genetic Markers, 0302 clinical medicine, MESH: Genetic Screening, MESH : Child, MESH: Child, Surveys and Questionnaires, MESH : Genetic Markers, MESH : Female, Child, Genetics (clinical), Genetics, 0303 health sciences, MESH: Nuclear Family, medicine.diagnostic_test, MESH : Chromosomes, Human, Pair 11, MESH : Questionnaires, [ SDV.SPEE ] Life Sciences [q-bio]/Santé publique et épidémiologie, Atopic dermatitis, MESH : Adult, 3. Good health, Female, Adult, Genetic Markers, Adolescent, MESH: Hypersensitivity, MESH : Male, Biology, Article, Nuclear Family, 03 medical and health sciences, Genetic linkage, MESH : Adolescent, medicine, MESH : Eczema, Hypersensitivity, Humans, Genetic Testing, 030304 developmental biology, Genetic testing, Asthma, Genetic association, Linkage (software), MESH: Adolescent, MESH : Genetic Screening, MESH: Humans, MESH : Hypersensitivity, MESH: Questionnaires, Chromosomes, Human, Pair 11, MESH : Humans, MESH: Adult, medicine.disease, MESH: Male, MESH : Lod Score, 030228 respiratory system, MESH: Lod Score, MESH: Eczema, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Immunology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, MESH : Nuclear Family, MESH: Chromosomes, Human, Pair 11, Lod Score, MESH: Linkage (Genetics), MESH: Female, MESH : Linkage (Genetics)
Abstract

International audience; Asthma, allergic rhinitis (AR) and atopic dermatitis also called eczema are allergic co-morbidites, which are likely to depend on pleiotropic genetic effects as well as on specific genetic factors. After a previous genome-wide linkage screen conducted for asthma and AR in a sample of 295 French EGEA families ascertained through asthmatic subjects, the aim here was to search for genetic factors involved in eczema and more particularly the ones shared by the three allergic diseases using the same EGEA data. In this sake, eczema and phenotypes of "allergic disease" accounting for the joint information on the presence/absence of the three diseases were examined by linkage analyses using the maximum likelihood binomial method. A fine mapping was carried out in regions detected for potential linkage, followed by association studies using the family-based association test (FBAT). Evidence for linkage to 11p14 region was shown for "allergic disease" and eczema. Linkage was also indicated between eczema and 5q13 and between "allergic disease" and both 5p15 and 17q21 regions. Fine mapping supported the evidence of linkage to 11p14 and FBAT analyses showed the association between "allergic disease" and a marker located at the linkage peak on 11p14. Further investigations in this region will allow identifying genetic factor(s) which could have pleiotropic effect in the three allergic diseases.

Published
2007

4. The CF-CIRC study: a French collaborative study to assess the accuracy of Cystic Fibrosis diagnosis in neonatal screening

Author

Aleksander Edelman, Philippe Reix, Stéphanie Bui, E. Deneuville, F. Huet, Gérard Lenoir, Delphine Roussel, Gabriel Bellon, Isabelle Sermet-Gaudelus, Service de pédiatrie générale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Régulation des systèmes de transport dans les épithéliums (UMR_S467), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Ressources et de Compétences en Mucoviscidose [CHU Toulouse] (CRCM Toulouse), Service Pneumologie et allergologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre de Ressources et de Compétences de la Mucoviscidose, hôpital Sud, Hôpital d'Enfants du Bocage, Centre de Ressources et de compétences de la mucoviscidose (CRCM), Hôpital Debrousse, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Supported by Assistance Publique des Hôpitaux de Paris, Vaincre La Mucoviscidose and ABCF Protéines Associations., Edelman, Aleksander, Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Hôpital des Enfants, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Necker - Enfants Malades [AP-HP], Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Sud, and Hospices Civils de Lyon (HCL) - Hospices Civils de Lyon (HCL)

Subjects
Male, Pathology, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Mucous membrane of nose, MESH : Equipment Design, MESH : Child, Preschool, MESH: Catheterization, medicine.disease_cause, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Cystic fibrosis, Gastroenterology, MESH: Amiloride, Amiloride, Study Protocol, MESH : Catheterization, MESH: Genetic Screening, Subcutaneous Tissue, 0302 clinical medicine, MESH : Electric Conductivity, Reference Values, MESH : Chlorides, MESH : Female, 030212 general & internal medicine, Sympathomimetics, Sweat, MESH: Cystic Fibrosis Transmembrane Conductance Regulator, Mutation, biology, medicine.diagnostic_test, lcsh:RJ1-570, MESH : Infant, Equipment Design, MESH: Infant, Cystic fibrosis transmembrane conductance regulator, Electrodes, Implanted, 3. Good health, Perfusion, Research Design, Child, Preschool, Chloride channel, Female, France, Sodium Channel Blockers, MESH: Infant, Newbo, medicine.medical_specialty, MESH : Electrodes, Implanted, MESH: Cystic Fibrosis, MESH: Electric Conductivity, Sensitivity and Specificity, Catheterization, 03 medical and health sciences, MESH : Amiloride, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, Neonatal Screening, Chlorides, Predictive Value of Tests, MESH : Cystic Fibrosis, 030225 pediatrics, Internal medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Immunoreactive trypsinogen, Pediatrics, Perinatology, and Child Health, Genetic Testing, MESH: Chlorides, MESH : France, Genetic testing, MESH : Genetic Screening, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Newborn screening, MESH: Humans, Ion Transport, business.industry, MESH : Cystic Fibrosis Transmembrane Conductance Regulator, MESH : Humans, MESH: Child, Preschool, Sodium, Electric Conductivity, Infant, Newborn, Isoproterenol, Infant, lcsh:Pediatrics, medicine.disease, MESH: France, Nasal Mucosa, MESH : Infant, Newbo, Pediatrics, Perinatology and Child Health, biology.protein, [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, MESH: Electrodes, Implanted, business, MESH: Female, MESH: Equipment Design
Abstract

Background Cystic fibrosis (CF) is caused by mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR) protein, which acts as a chloride channel after activation by cyclic AMP (cAMP). Newborn screening programs for CF usually consist of an immunoreactive trypsinogen (IRT) assay, followed when IRT is elevated by testing for a panel of CF-causing mutations. Some children, however, may have persistent hypertrypsinogenemia, only one or no identified CFTR gene mutation, and sweat chloride concentrations close to normal values. In vivo demonstration of abnormal CFTR protein function would be an important diagnostic aid in this situation. Measurements of transepithelial nasal potential differences (NPD) in adults accurately characterize CFTR-related ion transport. The aim of the present study is to establish reference values for NPD measurements for healthy children and those with CF aged 3 months to 3 years, the age range of most difficult-to-diagnose patients with suspected CF. The ultimate goal of our study is to validate NPD testing as a diagnostic tool for children with borderline results in neonatal screening. Methods/Design We adapted the standard NPD protocol for young children, designed a special catheter for them, used a slower perfusion rate, and shortened the protocol to include only measurement of basal PD, transepithelial sodium (Na+) transport in response to the Na+ channel inhibitor amiloride, and CFTR-mediated chloride (Cl-) secretion in response to isoproterenol, a β-agonist in a Cl- free solution. The study will include 20 children with CF and 20 healthy control children. CF children will be included only if they carry 2 CF-causing mutations in the CFTR gene or have sweat chloride concentrations > 60 mEq/L or both. The healthy children will be recruited among the siblings of the CF patients, after verification that they do not carry the familial mutation. Discussion A preliminary study of 3 adult control subjects and 4 children older than 12 years with CF verified that the new protocol was well tolerated and produced NPD measurements that did not differ significantly from those obtained with the standard protocol. This preliminary study will provide a basis for interpreting NPD measurements in patients with suspected CF after neonatal screening. Earlier definitive diagnosis should alleviate parental distress and allow earlier therapeutic intervention and genetic counseling.

Published
2006

5. Ethical reflections on pharmacogenetics and DNA banking in a cohort of HIV-infected patients

Author

De Montgolfier, Sandrine, Moutel, Grégoire, Duchange, Nathalie, Hervé, Christian, Theodorou, Ioannis, Leport, Catherine, Laboratoire d'éthique médicale et médecine légale (LEM), Université Paris Descartes - Paris 5 (UPD5), Immunologie cellulaire et tissulaire, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR113-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Recherche en Pathologie Infectieuse, Université Paris Diderot - Paris 7 (UPD7), Agence Nationale de Recherches sur le Sida (ANRS, Action Coordonnée n° 7) Association des Professeurs de Pathologie Infectieuse et Tropicale (APPIT) and associated pharmaceutical companies: Abbott, Boehringer-Ingelheim, Roche, Bristol Myers Squib Pharma, Laboratoire d'éthique médicale et médecine légale ( LEM ), Université Paris Descartes - Paris 5 ( UPD5 ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -IFR113-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris Diderot - Paris 7 ( UPD7 ), and Duchange, Nathalie

Subjects
MESH: Ethics, Medical, Databases, Factual, MESH : DNA, HIV Infections, MESH: Research Support, Non-U.S. Gov't, MESH : Biological Specimen Banks, Cohort Studies, MESH : Research Support, Non-U.S. Gov't, MESH : Ethics, Medical, MESH: Genetic Screening, MESH : Genetic Research, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Informed Consent, Genetic Privacy, MESH: Cohort Studies, MESH: Confidentiality, Biological Specimen Banks, Informed Consent, MESH : Confidentiality, MESH: Biological Specimen Banks, MESH: DNA, MESH: HIV Infections, [ SDV.MHEP.MI ] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Genetic Research, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, [ SDV.ETH ] Life Sciences [q-bio]/Ethics, MESH : Pharmacogenetics, MESH: Genetic Privacy, Confidentiality, Genetic Research, MESH : Genetic Privacy, MESH: Pharmacogenetics, MESH : Cohort Studies, MESH : Databases, Factual, Article, MESH : HIV Infections, Humans, Ethics, Medical, Genetic Testing, MESH : Genetic Screening, MESH: Humans, MESH : Humans, MESH: Biolo, DNA, MESH : Biolo, [SDV.ETH] Life Sciences [q-bio]/Ethics, MESH: Databases, Factual, [SDV.ETH]Life Sciences [q-bio]/Ethics, MESH : Informed Consent, Pharmacogenetics
Abstract

APROCO study group : collective author; The aim of this study was to analyse ethical issues concerning the storage of human biological samples to be used in genetic analyses and pharmacogenetic research based on a French experience of DNA banking in a cohort of human immunodeficiency virus (HIV)-infected patients started on a protease inhibitor-containing treatment. We describe the ethical issues raised during the establishment of a DNA bank, including questions dealing with autonomy, benefit to the patient, information sharing and confidentiality as well as guarantees concerning the storage and use of DNA. The practical applications of themes illustrated theoretically in the literature are discussed. Most of the points raised are not specific to HIV, but some of them may be more accurate due to the characteristics of the HIV population, which is more involved in the social debate through the community life and the increased risk of stigmatization. Our results are summarized in the memorandum and consent form presented in the Appendices. One issue still open to discussion is the way the results of genetic data will be given to the patients. This work should allow other researchers and members of evaluation committees to enrich their considerations and should stimulate discussion on this topic.

Published
2002

6. Mutation screening of the urocortin gene: identification of new single nucleotide polymorphisms and association studies with obesity in French Caucasians

Author

Gérard Waeber, J. Weill, Philippe Froguel, Jérôme Delplanque, Francis Vasseur, Christian Dina, Emmanuelle Durand, Karine Clément, Amar Abderrahmani, B. Guy-Grand, Philippe Boutin, Génétique des maladies multifactorielles ( GMM ), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Physique, Université de Lille, Sciences Humaines et Sociales, Institut de Chimie de la Matière Condensée de Bordeaux ( ICMCB ), Université de Bordeaux ( UB ) -Centre National de la Recherche Scientifique ( CNRS ), Développement artériel, Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Mercator Océan, Société Civile CNRS Ifremer IRD Météo-France SHOM, Département de Médecine Interne, Université de Lausanne ( UNIL ), Département de Biologie Cellulaire et de Morphologie, Déterminants Biologiques et Comportementaux des Obésités, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôtel-Dieu-EA3502, Service de nutrition, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital de l'Hôtel-Dieu, Nutrition et obésité : approches génétique et transcriptomique, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -IFR58-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Département de nutrition, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôtel-Dieu, Service d'endocrinologie pédiatrique [CHU Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Liquides Ioniques et Interfaces Chargées ( LI2C ), Centre National de la Recherche Scientifique ( CNRS ) -ESPCI ParisTech-Université Pierre et Marie Curie - Paris 6 ( UPMC ), Section of Genomic Medicine, Imperial College London, Genome Centre, Imperial College London-Hammersmith campus, Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut de Chimie de la Matière Condensée de Bordeaux (ICMCB), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut Polytechnique de Bordeaux-Université de Bordeaux (UB), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lausanne (UNIL), EA3502-Hôtel-Dieu-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital de l'Hôtel-Dieu, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR58-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Liquides Ioniques et Interfaces Chargées (LI2C), Université Pierre et Marie Curie - Paris 6 (UPMC)-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôtel-Dieu-EA3502, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital de l'Hôtel-Dieu, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôtel-Dieu, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Hôpital Jeanne de Flandre [Lille], Centre National de la Recherche Scientifique (CNRS)-ESPCI ParisTech-Université Pierre et Marie Curie - Paris 6 (UPMC), Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER), Université de Lausanne = University of Lausanne (UNIL), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu-EA3502, and Froguel, Philippe

Subjects
Male, Candidate gene, Corticotropin-Releasing Hormone, MESH : Polymorphism, Genetic, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, MESH : Aged, MESH: Base Sequence, Biochemistry, MESH : Chromosomes, Human, Pair 2, Endocrinology, MESH: Genetic Screening, Gene Frequency, MESH: Quantitative Trait, Heritable, MESH: Obesity, MESH : Female, MESH : Gene Frequency, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, Urocortins, Urocortin, Genetics, MESH: Aged, MESH: Middle Aged, MESH: European Continental Ancestry Group, Middle Aged, MESH : Adult, MESH: Corticotropin-Releasing Hormone, Chromosomes, Human, Pair 2, Female, MESH : Obesity, France, MESH : Corticotropin-Releasing Hormone, MESH : Mutation, Adult, medicine.medical_specialty, MESH: Mutation, MESH : Quantitative Trait, Heritable, MESH : Male, MESH: Chromosomes, Human, Pair 2, Locus (genetics), Single-nucleotide polymorphism, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, White People, MESH : European Continental Ancestry Group, Quantitative Trait, Heritable, Internal medicine, Genetic variation, MESH: Polymorphism, Genetic, medicine, MESH: Gene Frequency, Humans, MESH : Middle Aged, Genetic Testing, Obesity, MESH : France, Gene, Aged, Genetic association, MESH : Genetic Screening, Polymorphism, Genetic, MESH: Humans, Base Sequence, Biochemistry (medical), MESH : Humans, MESH: Adult, medicine.disease, MESH: Male, MESH: France, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, MESH : Base Sequence, MESH: Female
Abstract

A linkage between obesity-related phenotypes and the 2p21–23 locus has been reported previously. The urocortin (UCN) gene resides at this interval, and its protein decreases appetite behavior, suggesting that UCN may be a candidate gene for susceptibility to obesity. We localized the UCN gene by radiation hybrid mapping, and the surrounding markers were genotyped in a collection of French families. Evidence for linkage was shown between the marker D2S165 and leptin levels (LOD score, 1.34; P 0.006) and between D2S2247 and the z-score of body mass index (LOD score, 1.829; P 0.0019). The gene was screened for SNPs in 96 obese patients. Four new variants were established. Two single nucleotide polymorphisms were located in the promoter (535 A3 G, 286 G3 A), one in intron 1 (31 C3 G), and one in the 3-untranslated region (34 C3 T). Association studies in cohorts of 722 unrelated obese and 381 control subjects and transmission disequilibrium tests, performed for the two frequent promoter polymorphisms, in 120 families (894 individuals) showed that no association was present between these variants and obesity, obesity-related phenotypes, and diabetes. Thus, our analyses of the genetic variations of the UCN gene suggest that, at least in French Caucasians, they do not represent a major cause of obesity. (J Clin Endocrinol Metab 87: 867– 869, 2002)

Published
2002

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