12 results on '"Mugneret, F"'
Search Results
2. NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis
- Author
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Struski, S, Lagarde, S, Bories, P, Puiseux, C, Prade, N, Cuccuini, W, Pages, M-P, Bidet, A, Gervais, C, Lafage-Pochitaloff, M, Roche-Lestienne, C, Barin, C, Penther, D, Nadal, N, Radford-Weiss, I, Collonge-Rame, M-A, Gaillard, B, Mugneret, F, Lefebvre, C, Bart-Delabesse, E, Petit, A, Leverger, G, Broccardo, C, Luquet, I, Pasquet, M, and Delabesse, E
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- 2017
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3. Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases
- Author
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Gruchy, N., Vialard, F., Blondeel, E., Le Meur, N., Joly-Hélas, G., Chambon, P., Till, M., Herbaut-Graux, M., Vigouroux-Castera, A., Coussement, A., Lespinasse, J., Amblard, F., Jimenez, M., Lebel Roy Camille, L., Carré-Pigeon, F., Flori, E., Mugneret, F., Jaillard, S., Yardin, C., Harbuz, R., Collonge Rame, M., Vago, P., Valduga, M., and Leporrier, N.
- Published
- 2014
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4. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?
- Author
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El Chehadeh, S., primary, Touraine, R., additional, Prieur, F., additional, Reardon, W., additional, Bienvenu, T., additional, Chantot-Bastaraud, S., additional, Doco-Fenzy, M., additional, Landais, E., additional, Philippe, C., additional, Marle, N., additional, Callier, P., additional, Mosca-Boidron, A.-L., additional, Mugneret, F., additional, Le Meur, N., additional, Goldenberg, A., additional, Guerrot, A.-M., additional, Chambon, P., additional, Satre, V., additional, Coutton, C., additional, Jouk, P.-S., additional, Devillard, F., additional, Dieterich, K., additional, Afenjar, A., additional, Burglen, L., additional, Moutard, M.-L., additional, Addor, M.-C., additional, Lebon, S., additional, Martinet, D., additional, Alessandri, J.-L., additional, Doray, B., additional, Miguet, M., additional, Devys, D., additional, Saugier-Veber, P., additional, Drunat, S., additional, Aral, B., additional, Kremer, V., additional, Rondeau, S., additional, Tabet, A.-C., additional, Thevenon, J., additional, Thauvin-Robinet, C., additional, Perreton, N., additional, Des Portes, V., additional, and Faivre, L., additional
- Published
- 2017
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5. NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis
- Author
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Struski, S, primary, Lagarde, S, additional, Bories, P, additional, Puiseux, C, additional, Prade, N, additional, Cuccuini, W, additional, Pages, M-P, additional, Bidet, A, additional, Gervais, C, additional, Lafage-Pochitaloff, M, additional, Roche-Lestienne, C, additional, Barin, C, additional, Penther, D, additional, Nadal, N, additional, Radford-Weiss, I, additional, Collonge-Rame, M-A, additional, Gaillard, B, additional, Mugneret, F, additional, Lefebvre, C, additional, Bart-Delabesse, E, additional, Petit, A, additional, Leverger, G, additional, Broccardo, C, additional, Luquet, I, additional, Pasquet, M, additional, and Delabesse, E, additional
- Published
- 2016
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6. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
- Author
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El Chehadeh, S., Touraine, R., Prieur, F., Reardon, W., Bienvenu, T., Chantot ‐ Bastaraud, S., Doco ‐ Fenzy, M., Landais, E., Philippe, C., Marle, N., Callier, P., Mosca ‐ Boidron, A. ‐ L., Mugneret, F., Le Meur, N., Goldenberg, A., Guerrot, A. ‐ M., Chambon, P., Satre, V., Coutton, C., and Jouk, P. ‐ S.
- Subjects
X chromosome ,GENETIC correlations ,PHENOTYPES ,SPASTICITY ,EPILEPSY - Abstract
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling. One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mildly (XCI: 70/30, 63/37, 100/0 in blood and random in saliva), one moderately (XCI: random) and three severely (XCI: uninformative and 88/12) affected patients. After combining our data with data from the literature, we could not show a correlation between XCI in the blood or duplication size and the severity of the phenotype, or explain the presence of a phenotype in these females. These findings confirm that an abnormal phenotype, even severe, can be a rare event in females born to asymptomatic carrier mothers, making genetic counselling difficult in couples at risk in terms of prognosis, in particular in prenatal cases. [ABSTRACT FROM AUTHOR]
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- 2017
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7. NUP98is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis
- Author
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Struski, S, Lagarde, S, Bories, P, Puiseux, C, Prade, N, Cuccuini, W, Pages, M-P, Bidet, A, Gervais, C, Lafage-Pochitaloff, M, Roche-Lestienne, C, Barin, C, Penther, D, Nadal, N, Radford-Weiss, I, Collonge-Rame, M-A, Gaillard, B, Mugneret, F, Lefebvre, C, Bart-Delabesse, E, Petit, A, Leverger, G, Broccardo, C, Luquet, I, Pasquet, M, and Delabesse, E
- Abstract
Pediatric acute myeloid leukemia (AML) is a rare disease whose prognosis is highly variable according to factors such as chromosomal abnormalities. Recurrent genomic rearrangements are detected in half of pediatric AML by karyotype. NUcleoPorin 98(NUP98) gene is rearranged with 31 different fusion partner genes. These rearrangements are frequently undetected by conventional cytogenetics, as the NUP98gene is located at the end of the chromosome 11 short arm (11p15). By screening a series of 574 pediatric AML, we detected a NUP98rearrangement in 22 cases (3.8%), a frequency similar to CBFB-MYH11fusion gene (4.0%). The most frequent NUP98fusion gene partner is NSD1. These cases are homogeneous regarding their biological and clinical characteristics, and associated with bad prognosis only improved by bone marrow transplantation. We detailed the biological characteristics of these AML by exome sequencing which demonstrated few recurrent mutations (FLT3ITD, WT1, CEBPA, NBPF14, BCRand ODF1). The analysis of the clonal structure in these cases suggests that the mutation order in the NUP98-rearranged pediatric AML begins with the NUP98rearrangement leading to epigenetic dysregulations then followed by mutations of critical hematopoietic transcription factors and finally, activation of the FLT3 signaling pathway.
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- 2017
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8. Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features.
- Author
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Penther D, Etancelin P, Lusina D, Bidet A, Quilichini B, Gaillard B, Rafdord-Weiss I, Mozziconacci MJ, Ittel A, Roche-Lestienne C, Barin C, Soler G, Daudignon A, Nadal N, Chapiro E, Lefebvre C, Godon C, Nadeau G, Mugneret F, Richebourg S, Viailly PJ, Ferret Y, Nguyen-Khac F, and Eclache V
- Subjects
- Age Distribution, Aged, Bone Marrow pathology, Chromosomes, Human, X ultrastructure, DNA-Binding Proteins genetics, Dioxygenases, Female, Follow-Up Studies, Genes, Neoplasm, Humans, Leukemia, Myeloid epidemiology, Leukemia, Myeloid pathology, Male, Middle Aged, Mutation, Myelodysplastic Syndromes epidemiology, Myelodysplastic Syndromes pathology, Neoplasm Proteins genetics, Neoplasms, Second Primary genetics, Neoplasms, Second Primary pathology, Proto-Oncogene Proteins genetics, Sex Distribution, Chromosomes, Human, X genetics, Isochromosomes, Leukemia, Myeloid genetics, Myelodysplastic Syndromes genetics
- Published
- 2019
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9. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
- Author
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Gruchy N, Blondeel E, Le Meur N, Joly-Hélas G, Chambon P, Till M, Herbaux M, Vigouroux-Castera A, Coussement A, Lespinasse J, Amblard F, Jimenez Pocquet M, Lebel-Roy C, Carré-Pigeon F, Flori E, Mugneret F, Jaillard S, Yardin C, Harbuz R, Collonge-Rame MA, Vago P, Valduga M, Leporrier N, and Vialard F
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- Abortion, Induced trends, Adult, Amniocentesis, Chorionic Villi Sampling, Chromosomes, Human, X, Cohort Studies, Female, Fetal Death, France epidemiology, Humans, Maternal Age, Pregnancy, Prenatal Diagnosis, Retrospective Studies, Sex Chromosome Aberrations, Sex Chromosome Disorders diagnosis, Sex Chromosome Disorders diagnostic imaging, Sex Chromosome Disorders of Sex Development diagnosis, Sex Chromosome Disorders of Sex Development diagnostic imaging, Trisomy diagnosis, XYY Karyotype diagnosis, XYY Karyotype diagnostic imaging, Abortion, Induced statistics & numerical data, Abortion, Spontaneous epidemiology, Pregnancy Outcome epidemiology, Sex Chromosome Disorders epidemiology, Sex Chromosome Disorders of Sex Development epidemiology, XYY Karyotype epidemiology
- Abstract
Objective: Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997., Methods: This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded., Results: Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY)., Conclusion: The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd., (© 2016 John Wiley & Sons, Ltd.)
- Published
- 2016
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10. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
- Author
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Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Rivière JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, and Bourgeron T
- Subjects
- Autism Spectrum Disorder complications, Autism Spectrum Disorder diagnosis, Child, Chromosome Breakpoints, Chromosomes, Human, Pair 22 genetics, Chromosomes, Human, Pair 5 genetics, Humans, Intellectual Disability complications, Intellectual Disability diagnosis, Male, Paternal Inheritance, Semaphorins, Translocation, Genetic, Autism Spectrum Disorder genetics, Chromosome Deletion, Intellectual Disability genetics, Membrane Proteins genetics, Nerve Tissue Proteins genetics
- Abstract
Semaphorins are a large family of secreted and membrane-associated proteins necessary for wiring of the brain. Semaphorin 5A (SEMA5A) acts as a bifunctional guidance cue, exerting both attractive and inhibitory effects on developing axons. Previous studies have suggested that SEMA5A could be a susceptibility gene for autism spectrum disorders (ASDs). We first identified a de novo translocation t(5;22)(p15.3;q11.21) in a patient with ASD and intellectual disability (ID). At the translocation breakpoint on chromosome 5, we observed a 861-kb deletion encompassing the end of the SEMA5A gene. We delineated the breakpoint by NGS and observed that no gene was disrupted on chromosome 22. We then used Sanger sequencing to search for deleterious variants affecting SEMA5A in 142 patients with ASD. We also identified two independent heterozygous variants located in a conserved functional domain of the protein. Both variants were maternally inherited and predicted as deleterious. Our genetic screens identified the first case of a de novo SEMA5A microdeletion in a patient with ASD and ID. Although our study alone cannot formally associate SEMA5A with susceptibility to ASD, it provides additional evidence that Semaphorin dysfunction could lead to ASD and ID. Further studies on Semaphorins are warranted to better understand the role of this family of genes in susceptibility to neurodevelopmental disorders.
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- 2016
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11. Genetic differences between paediatric and adult Burkitt lymphomas.
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Havelange V, Pepermans X, Ameye G, Théate I, Callet-Bauchu E, Barin C, Penther D, Lippert E, Michaux L, Mugneret F, Dastugue N, Raphaël M, Vikkula M, and Poirel HA
- Subjects
- Adolescent, Adult, Age Factors, Child, Child, Preschool, Female, Humans, Infant, Male, Burkitt Lymphoma genetics, Chromosome Aberrations, Chromosomes, Human genetics, Loss of Heterozygosity, Neoplasm Proteins genetics
- Abstract
Dysregulation of MYC is the genetic hallmark of Burkitt lymphoma (BL) but it is encountered in other aggressive mature B-cell lymphomas. MYC dysregulation needs other cooperating events for BL development. We aimed to characterize these events and assess the differences between adult and paediatric BLs that may explain the different outcomes in these two populations. We analysed patterns of genetic aberrations in a series of 24 BLs: 11 adults and 13 children. We looked for genomic imbalances (copy number variations), copy-neutral loss of heterozygosity (CN-LOH) and mutations in TP53, CDKN2A, ID3 (exon 1), TCF3 (exon17) and CCND3 (exon 6). Young patients displayed more frequent 13q31.3q32.1 amplification, 7q32q36 gain and 5q23.3 CN-LOH, while 17p13 and 18q21.3 CN-LOH were only detected in adult BLs. ID3 mutations were present in all adult samples, but only in 42% of childhood cases. CCND3 and ID3 double-hit mutations, as well as 18q21 CN-LOH, seemed to be associated with poorer outcome. For the first time, we report different genetic anomalies between adult and paediatric BLs, suggesting age-related heterogeneity in Burkitt lymphomagenesis. This may explain the poorer prognosis of adult BLs. Additional studies are needed to confirm these results in the setting of clinical trials., (© 2016 John Wiley & Sons Ltd.)
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- 2016
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12. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
- Author
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Thevenon J, Monnier N, Callier P, Dieterich K, Francoise M, Montgomery T, Kjaergaard S, Neas K, Dixon J, Dahm TL, Huet F, Ragon C, Mosca-Boidron AL, Marle N, Duplomb L, Aubriot-Lorton MH, Mugneret F, Vokes SA, Tucker HW, Lunardi J, Faivre L, Jouk PS, and Thauvin-Robinet C
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- Animals, Carrier Proteins genetics, Comparative Genomic Hybridization, Contracture pathology, Female, Forkhead Transcription Factors genetics, France epidemiology, Humans, Male, Mice, Mice, Knockout, Repressor Proteins genetics, Syndrome, Arthrogryposis epidemiology, Chromosome Aberrations, Chromosomes, Human, Pair 3 genetics, Contracture epidemiology, Contracture genetics, Extremities pathology
- Abstract
Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20-25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 microdeletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously reported cases with a precise mapping of the deletions, documented a 250 kb smallest region of overlap (SRO) necessary for DLC. This region contained one gene, EIF4E3, the first three exons of the FOXP1 gene, and an intronic enhancer of FOXP1 named hs1149. Sanger sequencing and locus quantification of hs1149, EIF4E3, and FOXP1 in a cohort of 11 French patients affected by DLC appeared normal. In conclusion, we delineate a new microdeletion syndrome involving the 3p14.1p13 locus and associated with DLC and severe developmental delay., (© 2014 Wiley Periodicals, Inc.)
- Published
- 2014
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