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2. NEXT GENERATION SEQUENCING SHOULD BE PROPOSED TO EVERY WOMAN WITH 'IDIOPATHIC' PREMATURE OVARIAN INSUFFICIENCY

Author

Eskenazi, S., Bachelot, A., Hugon-Rodin, J, Plu-Bureau, G, Gompel, A., Catteau- Jonard, S, Molina-Gomes, D., Dewailly, D, Dodé, C, Christin-Maitre, S, Touraine, P, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d’endocrinologie et médecine de la reproduction [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Gynécologie et Obstétrique [Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Gynécologie - Obstétrique [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de biologie de la reproduction et de gynécologie [CHIPS, Poissy], centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], and Service de biochimie et de génétique moléculaire [CHU Cochin]

Subjects
next generation sequencing, endocrine system, phenotype, genetic results, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, primary ovarian insufficiency
Abstract

International audience; IntroductionPrimary ovarian insufficiency (POI) affects 1% of women under 40 years old. POI is idiopathic in more than 70% of cases. Though many candidate genes have been identified in recent years, the prevalence and pathogenicity of abnormalities are still difficult to establish.ObjectivesOur primary objective was to evaluate the prevalence of gene variations in a large prospective multicentric POI cohort. Our secondary objective was to evaluate the correlation between phenotype and genotype.Patients and MethodsTwo hundred and sixty-nine well-phenotyped POI patients were screened for variants of 18 known POI genes (BMP15, DMC1, EIF2S2, FIGLA, FOXL2, FSHR, GDF9, GPR3, HFM1, LHX8, MSH5, NOBOX, NR5A1, PGRMC1, STAG3, XPNPEP2, BHLB and FSHB) by next generation sequencing (NGS). Abnormalities were classified as “variant” or “variant of unknown signification” (VUS) according to available functional tests or algorithms (SIFT, Polyphen-2, MutationTaster).ResultsOne hundred and two patients (38%) were identified as having at least 1 genetic abnormality. Sixty-seven patients (25%) presented at least 1 variant. Forty eight patients presented at least 1 VUS (18%). Thirteen patients (5%) had combined abnormalities. NOBOX variants were the most common gene variants involved in POI (9%). Interestingly, we saw no significant differences in the previous family history of POI, ethnic origin, age at onset of POI, primary amenorrhea or secondary menstrual disturbances between the different genotypes.ConclusionIn our study, a high percentage of patients presented gene variants detected by NGS analysis (38%). Every POI patient should undergo NGS analysis to improve medical cares of the patients.

Published
2021

13. A Genome Scan for Modifiers of Age at onset in Huntington's disease: The HD MAPS Study

Author

J. L, L, Hayden, M, Almqvist, E, Brinkman, R, Durr, A, Dodé, C, Morrison, P, Suchowersky, O, Ross, C, Margolis, R, Rosenblatt, A, Gómez, T, Mayo, E, Cabrero, D, Novelletto, A, Frontali, M, Nance, M, Trent, R, Mccusker, E, Jones, R, Paulsen, J, Harrison, M, Zanko, A, Abramson, R, Russ, A, Knowlton, B, Djoussé, L, Mysore, J, Tariot, S, Gusella, M, Wheeler, V, Atwood, L, Cupples, L, Saint Hilaire, M, Cha, Jh, Hersch, S, Koroshetz, W, Gusella, J, Macdonald, M, and Myers, R

Subjects
Settore BIO/18 - Genetica
Published
2003

14. Impaired FGF signaling contributes to cleft lip and palate

Author

Riley, BM, Mansilla, MA, Ma, J, Daack-Hirsch, S, Maher, BS, Raffensperger, LM, Russo, ET, Vieira, AR, Dodé, C, Mohammad, M, Marazita, ML, Murray, JC, Riley, BM, Mansilla, MA, Ma, J, Daack-Hirsch, S, Maher, BS, Raffensperger, LM, Russo, ET, Vieira, AR, Dodé, C, Mohammad, M, Marazita, ML, and Murray, JC

Abstract

Nonsyndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from a combination of genetic and environmental factors. Several members of the FGF and FGFR families are expressed during craniofacial development and can rarely harbor mutations that result in human clefting syndromes. We hypothesized that disruptions in this pathway might also contribute to NS CLP. We sequenced the coding regions and performed association testing on 12 genes (FGFR1, FGFR2, FGFR3, FGF2, FGF3, FGF4, FGF7, FGF8, FGF9, FGF10, FGF18, and NUDT6) and used protein structure analyses to predict the function of amino acid variants. Seven likely disease-causing mutations were identified, including: one non-sense mutation (R609X) in FGFR1, a de novo missense mutation (D73H) in FGF8, and other missense variants in FGFR1, FGFR2, and FGFR3. Structural analysis of FGFR1, FGFR2, and FGF8 variants suggests that these mutations would impair the function of the proteins, albeit through different mechanisms. Genotyping of SNPs in the genes found associations between NS CLP and SNPs in FGF3, FGF7, FGF10, FGF18, and FGFR1. The data suggest that the FGF signaling pathway may contribute to as much as 3-5% of NS CLP and will be a consideration in the clinical management of CLP. © 2007 by The National Academy of Sciences of the USA.

Published
2007

19. Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication.

Author

UCL - MD/MINT - Département de médecine interne, UCL - MD/MNOP - Département de morphologie normale et pathologique, UCL - (SLuc) Service de néphrologie, UCL - (SLuc) Service d'anatomie pathologique, Jadoul, Michel, Dodé, C, Cosyns, Jean-Pierre, Abramowicz, D., Georges, B., Delpech, M, Pirson, Yves, UCL - MD/MINT - Département de médecine interne, UCL - MD/MNOP - Département de morphologie normale et pathologique, UCL - (SLuc) Service de néphrologie, UCL - (SLuc) Service d'anatomie pathologique, Jadoul, Michel, Dodé, C, Cosyns, Jean-Pierre, Abramowicz, D., Georges, B., Delpech, M, and Pirson, Yves

Abstract

BACKGROUND: The recent identification of genes responsible for syndromes of periodic fever with amyloidosis has opened the way to a molecular diagnosis of hereditary AA amyloidosis. METHODS: A Belgian woman presented for genetic counseling. Three first-degree relatives had a diagnosis of renal amyloidosis with a history of recurrent fever and inflammatory episodes. Medical records and pathological specimens were obtained from all physicians who had been in charge of her three relatives. Immunohistochemical staining was performed on paraffin-embedded material. A mutation search was performed in the MEFV (Mediterranean fever) and tumor necrosis factor receptor 1 (TNFR1 or TNFRSF1A) genes causing familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively. RESULTS: The family history was consistent with autosomal-dominant transmission of periodic fever with arthralgias, abdominal pain, and eventual AA amyloidosis involving the kidneys, digestive tract, and thyroid. Recurrent amyloidosis in kidney graft was demonstrated in one patient and was suspected in the other. A novel heterozygous mutation (C55S) in TNFRSF1A was identified in the affected patient available for genetic testing but not in the asymptomatic woman requiring counseling. No mutation was detected in MEFV. CONCLUSIONS: We report a novel mutation (C55S) in TNFRSF1A, resulting in autosomal-dominant periodic fever and AA amyloidosis. This condition, known as TRAPS, should be added to the differential diagnosis of hereditary renal amyloidosis, with obvious implications for management and genetic counseling.

Published
2001

23. L’hypogonadisme hypogonadotrophique idiopathique en France : premiers résultats du réseau GIS maladies rares

Author

Plotton, I., primary, Jomard, S., additional, Bachelot, A., additional, Bennet, A., additional, Dewailly, D., additional, David, M., additional, Woczynksy, S., additional, Pralong, Fr., additional, Bertherat, J., additional, Resnyk, Y., additional, Ronci-Chaix, N., additional, Raingeard, I., additional, Touraine, Ph., additional, Caron, Ph., additional, Tabarin, A., additional, Bringer, J., additional, Christin-Maître, S., additional, Bouchard, Ph., additional, Rohmer, V., additional, Carel, J.-Cl., additional, Tauber, M., additional, Nicolino, M., additional, de Roux, N., additional, Kottler, M.-L., additional, Dodé, C., additional, Young, J., additional, and Pugeat, M., additional

Published
2005
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26. P113 - L’hypogonadisme hypogonadotrophique idiopathique en France : premiers résultats du réseau GIS Maladies Rares

Author

Plotton, M., primary, David, M., additional, Nicolino, I., additional, Jomard, D., additional, Dewailly, S., additional, Bachelot, Ph., additional, Touraine, A., additional, Bennet, Ph., additional, Caron, M., additional, Tauber, A., additional, Bertherat, Cl., additional, Carel, A., additional, Meigne, Ph., additional, Bouchard, J., additional, Resnyk, Y., additional, Ronci-Chaix, N., additional, Tabarin, A., additional, Bringer, J., additional, Raingeard, I., additional, Rohmer, V., additional, Woczynksy, S.I., additional, Pralong, Fr., additional, Kottler, C., additional, Dodé, C., additional, De Roux, N., additional, Young, J., additional, and Pugeat, M., additional

Published
2004
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30. Are cognitive changes the first symptoms of Huntington's disease? A study of gene carriers.

Author

Hahn-Barma, V., Deweer, B., Dürr, A., Dodé, C., Feingold, J., Pillon, B., Agid, Y., Brice, A., Dubois, B., Dürr, A, and Dodé, C

Subjects
COGNITION disorders diagnosis, HUNTINGTON'S chorea diagnosis, COGNITION disorders, COMPARATIVE studies, HUNTINGTON disease, NEUROPSYCHOLOGICAL tests, RESEARCH methodology, MEDICAL cooperation, PSYCHOLOGICAL tests, RESEARCH, TIME, EVALUATION research, PREDICTIVE tests, BLIND experiment, SEVERITY of illness index, GENETIC carriers, DISEASE complications
Abstract

Background: Huntington's disease is a neurodegenerative disorder due to an excessive number of CAG repeats in the IT15 gene on chromosome 4. The first symptoms are typically choreic movements or psychiatric disorders, whereas global cognitive decline generally becomes obvious later. This study was aimed at detecting early subtle cognitive deficits in asymptomatic gene carriers.Methods: As part of the testing procedure for predictive diagnosis of Huntington's disease, 91 asymptomatic at risk candidates had a neuropsychological examination, evaluating global efficiency, attention, memory (Wechsler memory scale and California verbal learning test), and executive functions.Results: The groups of carriers (n=42) and non-carriers (n=49) differed only on a few memory variables. When we considered the group of gene carriers as a whole, significant correlations emerged between the number of CAG repeats and (a) performance on several tests of executive functions, and (b) performance on the hard pairs associates of the Wechsler memory scale. Further analysis of performance on this memory subtest led to the division of the group of carriers into two subgroups, without any overlap. The performance of subjects without cognitive deficits (n=32) was similar to that of non-carriers on all tests. The subjects with cognitive deficits (n=10) differed from both carriers without cognitive deficits and non-carriers over a wide array of variables measuring executive functions and memory. Moreover, qualitative aspects of the performance of carriers with cognitive deficits in the California verbal learning test closely resembled those of patients diagnosed as having Huntington's disease.Conclusion: This suggests that these subjects already have Huntington's disease, despite a total lack of motor and psychiatric signs. An ongoing follow up study is testing the prediction that they will develop the full range of symptoms of the disease earlier than carriers without cognitive deficits. [ABSTRACT FROM AUTHOR]

Published
1998

34. Deletion of CPEB1Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency

Author

Hyon, C., Mansour-Hendili, L., Chantot-Bastaraud, S., Donadille, B., Kerlan, V., Dodé, C., Jonard, S., Delemer, B., Gompel, A., Reznik, Y., Touraine, P., Siffroi, J. P., and Christin-Maitre, S.

Abstract

Context:Premature ovarian insufficiency (POI) may be secondary to chemotherapy, radiotherapy, or environmental factors. Genetic causes are identified in 20–25% of cases, but most POI cases remain idiopathic.Objective:This study aimed to identify new genes involved in POI and to characterize the implication of CPEB1gene in POI.Design and Setting:This was a case report and cohort study replicate conducted in academic medical centers.Patients and Methods:A deletion including CPEB1gene was first identified in a patient with primary amenorrhea. Secondly, 191 sporadic POI cases and 68 familial POI cases were included. For each patient, karyotype was normal and FMR1premutation was excluded. Search for CPEB1deletions was performed by quantitative multiplex PCR of short fluorescent fragments or DNA microarray analysis. Gene sequencing of CPEB1was performed for 95 patients.Results:We identified three patients carrying a microdeletion in band 15q25.2. The proximal breakpoint, for the three patients, falls within a low-copy repeat region disrupting the CPEB1gene, which represents a strong candidate gene for POI as it is known to be implicated in oocyte meiosis. No mutation was identified by sequencing CPEB1gene. Therefore, heterozygous deletion of CPEB1gene leading to haploinsufficiency could be responsible for POI in humans.Conclusion:Microdeletions of CPEB1were identified in 1.3% of patients with POI, whereas no mutation was identified. This microdeletion is rare but recurrent as it is mediated by nonallelic homologous recombination due to the existence of low-copy repeats in the region. This result demonstrates the importance of DNA microarray analysis in etiological evaluation and counseling of patients with POI.

Published
2016
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40. Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behçet's disease.

Author

Amoura Z, Dodé C, Hue S, Caillat-Zucman S, Bahram S, Delpech M, Grateau G, Wechsler B, and Piette J

Abstract

Objective.Behçet's disease is a chronic, relapsing, multisystemic inflammatory disorder characterized by recurrent oral and genital ulcers and by ocular, articular, vascular, and central nervous system involvement. The tumor necrosis factor alpha pathway is likely involved in the pathophysiology of Behçet's disease. One of the 2 TNF alpha receptors is TNF receptor superfamily 1A (TNFRSF1A). We searched for R92Q TNFRSF1A mutations in patients with Behçet's disease.Methods.A search for TNFRSF1A mutations was performed by polymerase chain reaction amplification of the TNFRSF1A gene, followed by denaturing high-performance liquid chromatography scanning.Results.Among the 74 unrelated European patients with Behçet's disease, 5 (6.8%) carried the R92Q TNFRSF1A mutation. The frequency of the R92Q mutation in patients with Behçet's disease was significantly higher than that in controls (P = 0.006 by Fisher's exact test). Deep vein thrombosis was significantly associated with the R92Q mutation (P = 0.001 [with Bonferroni adjustment for multiple comparisons]). Among the 30 patients with thrombosis, 10 had cerebral thrombophlebitis. None of these patients had the R92Q mutation. Among the 20 patients with Behçet's disease who had extracranial deep vein thrombosis, 6 had the R92Q mutation, whereas 14 did not (P < 0.0001)Conclusion.The R92Q mutation in patients with Behçet's disease is associated with an increased risk of extracranial venous thrombosis. This new finding may help in understanding the complex prothrombotic state in patients with Behçet's disease. [ABSTRACT FROM AUTHOR]

Published
2005
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44. Mutations in the <TOGGLE>MEFV</TOGGLE> gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever

Author

Dodé, C., Pêcheux, C., Cazeneuve, C., Cattan, D., Dervichian, M., Goossens, M., Delpech, M., and Amselem, S.

Abstract

Familial Mediterranean fever (FMF) is an autosomal recessively inherited disease affecting patients of the Mediterranean basin. FMF is characterized by recurrent episodes of fever accompanied with topical signs of inflammation. Some patients can develop a renal amyloidosis associated (AA) amyloidosis. The administration of colchicine is an effective preventive treatment of both the attacks and amyloidosis. The FMF gene (MEFV) was cloned and missense mutations were found to be responsible for the disease. We investigated a large series of 303 unselected and unrelated patients of various ethnic backgrounds with a clinical suspicion of FMF to confirm or invalidate the diagnosis of FMF and to determine the spectrum of MEFV mutations. Molecular analysis focused on all the most frequent mutations identified so far, and an exhaustive analysis of exon 10, containing the mutational hot-spot, was performed through DNA sequencing. Sixty-two percent of Sephardic, North African Arabs, Armenian and Turkish patients were either homozygous or compound heterozygous for MEFV mutations. In other populations surrounding the Mediterranean Sea such as Greek, Italian, Portuguese, Kurdish and Lebanese populations, mutations were also found. In general, patients without Mediterranean origin had no mutations in the MEFV gene. Two new missense mutations were identified in exon 10 of the MEFV gene: the S675N in an Italian patient and the M680L in a French patient without any known at-risk ethnic ancestry. Am. J. Med. Genet. 92:241–246, 2000. © 2000 Wiley-Liss, Inc.

Published
2000
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48. Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis

Author

Dodé C, Dürr A, Pêcheux C, Jf, Mouret, Belal S, Bachner L, Agid Y, Jc, Kaplan, Alexis Brice, and Feingold J

Subjects
Huntington Disease, Haplotypes, Gene Amplification, Humans, France, Polymerase Chain Reaction, Linkage Disequilibrium
Abstract

The molecular defect causing Huntington's disease (HD) has been found as an expansion of CAG triplets in the 5' coding region of IT15 gene. In the 29 French families reported, the HD disease is due to the expansion of the CAG triplets region above 38 copies. The complete sequencing of 10 HD alleles PCR products allowed us to confirm that expansion is restricted to the CAG repeat region and does not extend to the adjacent CCG repeat region which is also present in the PCR product. Then, we analysed linkage disequilibrium between the molecular defect and 6 DNA markers mapping to the 4p16.3 region. The most striking finding in this study is the presence of a strong linkage disequilibrium between HD and D4S127 (PvuII), D4S95 (AccI, MboI, TaqI) located in a region of 130 kb distal to IT15 gene. Two major haplotypes, comprising D4S127 (PvuII) and D4S95 (MboI, AccI) polymorphic sites, were found in the normal population as only one was found associated with HD alleles. This result can be interpreted either as an evidence for a rather recent founder effect or as several independent mutations occuring in chromosomes bearing the same haplotype.

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