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10 results on '"Coustier, Audrey"'

1. Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions

Author

Castellanos, Elisabeth, Blok, Marinus J., Brems, Hilde, Koczkowska, Magdalena, Pasmant, Eric, Wimmer, Katharina, Pacot, Laurence, Ye, Manuela, Nectoux, Juliette, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Orhant, Lucie, Vaucouleur, Nicolas, Blanché, Hélène, Parfait, Béatrice, Wolkenstein, Pierre, Vidaud, Michel, and Vidaud, Dominique

Published
2024
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2. Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1

Author

Pacot, Laurence, Pelletier, Valerie, Chansavang, Albain, Briand-Suleau, Audrey, Burin des Roziers, Cyril, Coustier, Audrey, Maillard, Theodora, Vaucouleur, Nicolas, Orhant, Lucie, Barbance, Cécile, Lermine, Alban, Hamzaoui, Nadim, Hadjadj, Djihad, Laurendeau, Ingrid, El Khattabi, Laïla, Nectoux, Juliette, Vidaud, Michel, Parfait, Béatrice, Dollfus, Hélène, Pasmant, Eric, and Vidaud, Dominique

Published
2023
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4. Droplet digital PCR for fast and accurate characterization of NF1 locus deletions: confirmation of the predominant maternal origin of type-1 deletions

Author

Pacot, Laurence, primary, Ye, Manuela, additional, Nectoux, Juliette, additional, Laurendeau, Ingrid, additional, Briand-Suleau, Audrey, additional, Coustier, Audrey, additional, Maillard, Théodora, additional, Barbance, Cécile, additional, Orhant, Lucie, additional, Vaucouleur, Nicolas, additional, Blanché, Hélène, additional, Parfait, Béatrice, additional, Wolkenstein, Pierre, additional, Vidaud, Michel, additional, Vidaud, Dominique, additional, Pasmant, Eric, additional, Castellanos, Elisabeth, additional, Blok, Marinus J., additional, Brems, Hilde, additional, Koczkowska, Magdalena, additional, and Wimmer, Katharina, additional

Published
2023
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5. Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1

Author

Pacot, Laurence, primary, Pelletier, Valerie, additional, Chansavang, Albain, additional, Briand-Suleau, Audrey, additional, Burin des Roziers, Cyril, additional, Coustier, Audrey, additional, Maillard, Theodora, additional, Vaucouleur, Nicolas, additional, Orhant, Lucie, additional, Barbance, Cécile, additional, Lermine, Alban, additional, Hamzaoui, Nadim, additional, Hadjadj, Djihad, additional, Laurendeau, Ingrid, additional, El Khattabi, Laïla, additional, Nectoux, Juliette, additional, Vidaud, Michel, additional, Parfait, Béatrice, additional, Dollfus, Hélène, additional, Pasmant, Eric, additional, and Vidaud, Dominique, additional

Published
2022
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6. Severe Phenotype in Patients with Large Deletions of NF1

Author

Pacot, Laurence, Vidaud, Dominique, Sabbagh, Audrey, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Morice-Picard, Fanny, Sigaudy, Sabine, Glazunova, Olga, Damaj, Lena, Layet, Valérie, Quelin, Chloé, Gilbert-Dussardier, Brigitte, Audic, Frédérique, Dollfus, Hélène, Guerrot, Anne-Marie, Lespinasse, James, Julia, Sophie, Vantyghem, Marie-Christine, Drouard, Magali, Lackmy, Marilyn, Leheup, Bruno, Alembik, Yves, Lemaire, Alexia, Nitschké, Patrick, Petit, Florence, Coeslier, Anne Dieux, Mutez, Eugénie, Taieb, Alain, Fradin, Mélanie, Capri, Yline, Nasser, Hala, Ruaud, Lyse, Dauriat, Benjamin, Bourthoumieu, Sylvie, Geneviève, David, Audebert-Bellanger, Séverine, Nizon, Mathilde, Stoeva, Radka, Hickman, Geoffroy, Nicolas, Gaël, Mazereeuw-Hautier, Juliette, Jannic, Arnaud, Ferkal, Salah, Parfait, Béatrice, Vidaud, Michel, Network, members of the NF France, Wolkenstein, Pierre, and Pasmant, Eric

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, cardiovascular abnormalities, dysmorphism, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, NF1 deletion, genotype–phenotype correlation, skeletal abnormalities, neurofibromatosis type 1, eye diseases, nervous system diseases, NF1, neurofibromas, NFs, MPNSTs, learning disabilities, malignant peripheral nerve sheath tumors, tumor predisposition, neoplasms, RC254-282
Abstract

Complete deletion of the NF1 gene is identified in 5–10% of patients with neurofibromatosis type 1 (NF1). Several studies have previously described particularly severe forms of the disease in NF1 patients with deletion of the NF1 locus, but comprehensive descriptions of large cohorts are still missing to fully characterize this contiguous gene syndrome. NF1-deleted patients were enrolled and phenotypically characterized with a standardized questionnaire between 2005 and 2020 from a large French NF1 cohort. Statistical analyses for main NF1-associated symptoms were performed versus an NF1 reference population. A deletion of the NF1 gene was detected in 4% (139/3479) of molecularly confirmed NF1 index cases. The median age of the group at clinical investigations was 21 years old. A comprehensive clinical assessment showed that 93% (116/126) of NF1-deleted patients fulfilled the NIH criteria for NF1. More than half had café-au-lait spots, skinfold freckling, Lisch nodules, neurofibromas, neurological abnormalities, and cognitive impairment or learning disabilities. Comparison with previously described “classic” NF1 cohorts showed a significantly higher proportion of symptomatic spinal neurofibromas, dysmorphism, learning disabilities, malignancies, and skeletal and cardiovascular abnormalities in the NF1-deleted group. We described the largest NF1-deleted cohort to date and clarified the more severe phenotype observed in these patients.

Published
2021

7. One NF1 Mutation may Conceal Another

Author

Pacot, Laurence, primary, Burin des Roziers, Cyril, additional, Laurendeau, Ingrid, additional, Briand-Suleau, Audrey, additional, Coustier, Audrey, additional, Mayard, Théodora, additional, Tlemsani, Camille, additional, Faivre, Laurence, additional, Thomas, Quentin, additional, Rodriguez, Diana, additional, Blesson, Sophie, additional, Dollfus, Hélène, additional, Muller, Yvon-Gauthier, additional, Parfait, Béatrice, additional, Vidaud, Michel, additional, Gilbert-Dussardier, Brigitte, additional, Yardin, Catherine, additional, Dauriat, Benjamin, additional, Derancourt, Christian, additional, Vidaud, Dominique, additional, and Pasmant, Eric, additional

Published
2019
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8. Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study

Author

El Khattabi, Laïla Allach, primary, Rouillac-Le Sciellour, Christelle, additional, Le Tessier, Dominique, additional, Luscan, Armelle, additional, Coustier, Audrey, additional, Porcher, Raphael, additional, Bhouri, Rakia, additional, Nectoux, Juliette, additional, Sérazin, Valérie, additional, Quibel, Thibaut, additional, Mandelbrot, Laurent, additional, Tsatsaris, Vassilis, additional, Vialard, François, additional, and Dupont, Jean-Michel, additional

Published
2016
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9. Droplet Digital PCR for Fast and Accurate Characterization of NF1Locus Deletions

Author

Pacot, Laurence, Ye, Manuela, Nectoux, Juliette, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Orhant, Lucie, Vaucouleur, Nicolas, Blanché, Hélène, Parfait, Béatrice, Wolkenstein, Pierre, Vidaud, Michel, Castellanos, Elisabeth, Blok, Marinus J., Brems, Hilde, Koczkowska, Magdalena, Pasmant, Eric, Wimmer, Katharina, Vidaud, Dominique, and Pasmant, Eric

Abstract

Neurofibromatosis type-1 is a genetic disorder caused by loss-of-function variants in the tumor-suppressor NF1. Approximately 4% to 11% of neurofibromatosis type-1 patients have a NF1locus complete deletion resulting from nonallelic homologous recombination between low copy repeats. Codeleted genes probably account for the more severe phenotype observed in NF1-deleted patients. This genotype–phenotype correlation highlights the need for a detailed molecular description. A droplet digital PCR (ddPCR) set along the NF1locus was designed to delimitate the three recurrent NF1deletion breakpoints. The ddPCR two mixes-set in 121 samples from nonrelated NF1-deleted patients was tested. Classification based on ddPCR versus multiplex ligation-dependent probe amplification (MLPA) was compared. In addition, microsatellites were analyzed to identify parental origin of deletions. ddPCR identified 77 type-1 (64%), 20 type-2 (16%), 7 type-3 (6%), and 17 atypical deletions (14%). The results were comparable with MLPA, except for three atypical deletions misclassified as type-2 using MLPA, for which the SUZ12gene was not deleted. A significant maternal bias (25 of 30) in the origin of deletions was identified. A fast and efficient ddPCR quantification to allow fine NF1deletion classification is proposed; ddPCR can be implemented easily into routine diagnosis to complement the techniques dedicated to NF1point variant identification. This new tool may help unravel the genetic basis conditioning phenotypic variability in NF1-deleted patients and offer tailored genetic counseling.

Published
2023
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10. Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.

Author

Pacot L, Ye M, Nectoux J, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Orhant L, Vaucouleur N, Blanché H, Parfait B, Wolkenstein P, Vidaud M, Vidaud D, and Pasmant E

Subjects
Humans, Multiplex Polymerase Chain Reaction, Homologous Recombination, Phenotype, Family, Gene Deletion, Neurofibromatosis 1 diagnosis, Neurofibromatosis 1 genetics
Abstract

Neurofibromatosis type-1 is a genetic disorder caused by loss-of-function variants in the tumor-suppressor NF1. Approximately 4% to 11% of neurofibromatosis type-1 patients have a NF1 locus complete deletion resulting from nonallelic homologous recombination between low copy repeats. Codeleted genes probably account for the more severe phenotype observed in NF1-deleted patients. This genotype-phenotype correlation highlights the need for a detailed molecular description. A droplet digital PCR (ddPCR) set along the NF1 locus was designed to delimitate the three recurrent NF1 deletion breakpoints. The ddPCR was tested in 121 samples from nonrelated NF1-deleted patients. Classification based on ddPCR versus multiplex ligation-dependent probe amplification (MLPA) was compared. In addition, microsatellites were analyzed to identify parental origin of deletions. ddPCR identified 77 type-1 (64%), 20 type-2 (16%), 7 type-3 (6%), and 17 atypical deletions (14%). The results were comparable with MLPA, except for three atypical deletions misclassified as type-2 using MLPA, for which the SUZ12 gene was not deleted. A significant maternal bias (25 of 30) in the origin of deletions was identified. This study proposes a fast and efficient ddPCR quantification to allow fine NF1 deletion classification. It indicates that ddPCR can be implemented easily into routine diagnosis to complement the techniques dedicated to NF1 point variant identification. This new tool may help unravel the genetic basis conditioning phenotypic variability in NF1-deleted patients and offer tailored genetic counseling., Competing Interests: Disclosure Statement None declared., (Copyright © 2024 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)

Published
2024
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