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11 results on '"Mazel, Benoit"'

1. MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

Author

Marsili, Luisa, van Lint, Freyja H. M., Russo, Francesco, van Spaendonck-Zwarts, Karin Y., Ader, Flavie, Bichon, Marie-Line, Faivre, Laurence, Houweling, Arjan C., Isidor, Bertrand, Lekanne Deprez, Ronald H., Cox, Moniek G. P. J., Wilde, Arthur A. M., Mazel, Benoit, Mercier, Sandra, Dooijes, Dennis, Millat, Gilles, Nguyen, Karine, Post, Jan G., Richard, Pascale, van de Beek, Irma, Vermeer, Alexa M. C., Boven, Ludolf, Jongbloed, Jan D. H., and van Tintelen, J. Peter

Published
2023
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2. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

Author

Vitobello, Antonio, Mazel, Benoit, Lelianova, Vera G., Zangrandi, Alice, Petitto, Evelina, Suckling, Jason, Salpietro, Vincenzo, Meyer, Robert, Elbracht, Miriam, Kurth, Ingo, Eggermann, Thomas, Benlaouer, Ouafa, Lall, Gurprit, Tonevitsky, Alexander G., Scott, Daryl A., Chan, Katie M., Rosenfeld, Jill A., Nambot, Sophie, Safraou, Hana, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Guo, Hui, Petersen, Andrea K., Granger, Leslie, Crunk, Amy, Bayat, Allan, Striano, Pasquale, Zara, Federico, Scala, Marcello, Thomas, Quentin, Delahaye, Andrée, de Sainte Agathe, Jean-Madeleine, Buratti, Julien, Kozlov, Serguei V., Faivre, Laurence, Thauvin-Robinet, Christel, and Ushkaryov, Yuri

Published
2022
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3. CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature

Author

Rouxel, Flavien, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael, Dias, Patricia, Barat-Houari, Mouna, Bednarek, Nathalie, Boute, Odile, Chatron, Nicolas, Cherik, Florian, Delahaye-Duriez, Andrée, Doco-Fenzy, Martine, Faivre, Laurence, Gauthier, Lucas W., Heron, Delphine, Hildebrand, Michael S., Lesca, Gaëtan, Lespinasse, James, Mazel, Benoit, Menke, Leonie A., Morgan, Angela T., Pinson, Lucile, Quelin, Chloe, Rossi, Massimiliano, Ruiz-Pallares, Nathalie, Tran-Mau-Them, Frederic, Van Kessel, Imke N., Vincent, Marie, Weber, Mathys, Willems, Marjolaine, Leguyader, Gwenael, Sadikovic, Bekim, and Genevieve, David

Published
2022
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4. FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Author

Mazel, Benoit, Delanne, Julian, Garde, Aurore, Racine, Caroline, Bruel, Ange‐Line, Duffourd, Yannis, Lopergolo, Diego, Santorelli, Filippo Maria, Marchi, Viviana, Pinto, Anna Maria, Mencarelli, Maria Antonietta, Canitano, Roberto, Valentino, Floriana, Papa, Filomena Tiziana, Fallerini, Chiara, Mari, Francesca, Renieri, Alessandra, Munnich, Arnold, Niclass, Tanguy, and Le Guyader, Gwenaël

Published
2024
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5. Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients

Author

Mazel, Benoit, primary, Bertolone, Geoffrey, additional, Baurand, Amandine, additional, Cosset, Elodie, additional, Sawka, Caroline, additional, Robert, Marion, additional, Gautier, Elodie, additional, Lançon, Allan, additional, Réda, Manon, additional, Favier, Laure, additional, Dérangère, Valentin, additional, Richard, Corentin, additional, Binquet, Christine, additional, Boidot, Romain, additional, Goussot, Vincent, additional, Albuisson, Juliette, additional, Ghiringhelli, François, additional, Faivre, Laurence, additional, and Nambot, Sophie, additional

Published
2023
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6. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Author

Kayumi, Sayaka, primary, Pérez-Jurado, Luis A., additional, Palomares, María, additional, Rangu, Sneha, additional, Sheppard, Sarah E., additional, Chung, Wendy K., additional, Kruer, Michael C., additional, Kharbanda, Mira, additional, Amor, David J., additional, McGillivray, George, additional, Cohen, Julie S., additional, García-Miñaúr, Sixto, additional, van Eyk, Clare L., additional, Harper, Kelly, additional, Jolly, Lachlan A., additional, Webber, Dani L., additional, Barnett, Christopher P., additional, Santos-Simarro, Fernando, additional, Pacio-Míguez, Marta, additional, Pozo, Angela del, additional, Bakhtiari, Somayeh, additional, Deardorff, Matthew, additional, Dubbs, Holly A., additional, Izumi, Kosuke, additional, Grand, Katheryn, additional, Gray, Christopher, additional, Mark, Paul R., additional, Bhoj, Elizabeth J., additional, Li, Dong, additional, Ortiz-Gonzalez, Xilma R., additional, Keena, Beth, additional, Zackai, Elaine H., additional, Goldberg, Ethan M., additional, Perez de Nanclares, Guiomar, additional, Pereda, Arrate, additional, Llano-Rivas, Isabel, additional, Arroyo, Ignacio, additional, Fernández-Cuesta, María Ángeles, additional, Thauvin-Robinet, Christel, additional, Faivre, Laurence, additional, Garde, Aurore, additional, Mazel, Benoit, additional, Bruel, Ange-Line, additional, Tress, Michael L., additional, Brilstra, Eva, additional, Fine, Amena Smith, additional, Crompton, Kylie E., additional, Stegmann, Alexander P.A., additional, Sinnema, Margje, additional, Stevens, Servi C.J., additional, Nicolai, Joost, additional, Lesca, Gaetan, additional, Lion-François, Laurence, additional, Haye, Damien, additional, Chatron, Nicolas, additional, Piton, Amelie, additional, Nizon, Mathilde, additional, Cogne, Benjamin, additional, Srivastava, Siddharth, additional, Bassetti, Jennifer, additional, Muss, Candace, additional, Gripp, Karen W., additional, Procopio, Rebecca A., additional, Millan, Francisca, additional, Morrow, Michelle M., additional, Assaf, Melissa, additional, Moreno-De-Luca, Andres, additional, Joss, Shelagh, additional, Hamilton, Mark J., additional, Bertoli, Marta, additional, Foulds, Nicola, additional, McKee, Shane, additional, MacLennan, Alastair H., additional, Gecz, Jozef, additional, and Corbett, Mark A., additional

Published
2022
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7. Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused byTSPYL1variants

Author

Mazel, Benoit, primary, Mallet, Delphine, additional, Roucher‐Boulez, Florence, additional, Signor, Candace Ben, additional, Bournez, Marie, additional, Darmency, Véronique, additional, Bourgeois, Valentin, additional, Poe, Charlotte, additional, El Khabbaz, Fares, additional, Vitobello, Antonio, additional, Philippe, Christophe, additional, Duffourd, Yannis, additional, Thauvin‐Robinet, Christel, additional, Faivre, Laurence, additional, and Nambot, Sophie, additional

Published
2022
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8. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

Author

Pavinato, Lisa, primary, Delle Vedove, Andrea, additional, Carli, Diana, additional, Ferrero, Marta, additional, Carestiato, Silvia, additional, Howe, Jennifer L, additional, Agolini, Emanuele, additional, Coviello, Domenico A, additional, van de Laar, Ingrid, additional, Au, Ping Yee Billie, additional, Di Gregorio, Eleonora, additional, Fabbiani, Alessandra, additional, Croci, Susanna, additional, Mencarelli, Maria Antonietta, additional, Bruno, Lucia P, additional, Renieri, Alessandra, additional, Veltra, Danai, additional, Sofocleous, Christalena, additional, Faivre, Laurence, additional, Mazel, Benoit, additional, Safraou, Hana, additional, Denommé-Pichon, Anne-Sophie, additional, van Slegtenhorst, Marjon A, additional, Giesbertz, Noor, additional, van Jaarsveld, Richard H, additional, Childers, Anna, additional, Rogers, R Curtis, additional, Novelli, Antonio, additional, De Rubeis, Silvia, additional, Buxbaum, Joseph D, additional, Scherer, Stephen W, additional, Ferrero, Giovanni Battista, additional, Wirth, Brunhilde, additional, and Brusco, Alfredo, additional

Published
2022
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9. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

Author

Pavinato, Lisa, Vedove, Andrea Delle, Carli, Diana, Ferrero, Marta, Carestiato, Silvia, Howe, Jennifer L, Agolini, Emanuele, Coviello, Domenico A, van de Laar, Ingrid, Au, Ping Yee Billie, Gregorio, Eleonora Di, Fabbiani, Alessandra, Croci, Susanna, Mencarelli, Maria Antonietta, Bruno, Lucia P, Renieri, Alessandra, Veltra, Danai, Sofocleous, Christalena, Faivre, Laurence, and Mazel, Benoit

Subjects
LANGUAGE disorders, ATTENTION-deficit hyperactivity disorder, NEURAL development, PLURIPOTENT stem cells, NEURAL circuitry
Abstract

We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1 ; MIM*601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation of neuronal mRNAs critical for synaptic plasticity, as well as mRNAs encoding proteins important for cell proliferation and migration in multiple cell types. We identified 12 cases with loss-of-function CAPRIN1 variants, and a neurodevelopmental phenotype characterized by language impairment/speech delay (100%), intellectual disability (83%), attention deficit hyperactivity disorder (82%) and autism spectrum disorder (67%). Affected individuals also had respiratory problems (50%), limb/skeletal anomalies (50%), developmental delay (42%) feeding difficulties (33%), seizures (33%) and ophthalmologic problems (33%). In patient-derived lymphoblasts and fibroblasts, we showed a monoallelic expression of the wild-type allele, and a reduction of the transcript and protein compatible with a half dose. To further study pathogenic mechanisms, we generated s CAPRIN1 +/− human induced pluripotent stem cells via CRISPR–Cas9 mutagenesis and differentiated them into neuronal progenitor cells and cortical neurons. CAPRIN1 loss caused reduced neuronal processes, overall disruption of the neuronal organization and an increased neuronal degeneration. We also observed an alteration of mRNA translation in CAPRIN1 +/− neurons, compatible with its suggested function as translational inhibitor. CAPRIN1 +/− neurons also showed an impaired calcium signalling and increased oxidative stress, two mechanisms that may directly affect neuronal networks development, maintenance and function. According to what was previously observed in the mouse model, measurements of activity in CAPRIN1 +/− neurons via micro-electrode arrays indicated lower spike rates and bursts, with an overall reduced activity. In conclusion, we demonstrate that CAPRIN1 haploinsufficiency causes a novel autosomal dominant neurodevelopmental disorder and identify morphological and functional alterations associated with this disorder in human neuronal models. [ABSTRACT FROM AUTHOR]

Published
2023
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10. FOXG1variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development

Author

Mazel, Benoit, Delanne, Julian, Garde, Aurore, Racine, Caroline, Bruel, Ange‐Line, Duffourd, Yannis, Lopergolo, Diego, Santorelli, Filippo Maria, Marchi, Viviana, Pinto, Anna Maria, Mencarelli, Maria Antonietta, Canitano, Roberto, Valentino, Floriana, Papa, Filomena Tiziana, Fallerini, Chiara, Mari, Francesca, Renieri, Alessandra, Munnich, Arnold, Niclass, Tanguy, Le Guyader, Gwenaël, Thauvin‐Robinet, Christel, Philippe, Christophe, and Faivre, Laurence

Abstract

Since 2008, FOXG1haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years, FOXG1sequencing was only prescribed in such severe cases, limiting insight into the full clinical spectrum associated with this gene. Next‐generation sequencing (NGS) now enables unbiased diagnostics. Through the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders, we gathered data from patients with heterozygous FOXG1variants presenting a mild phenotype, defined as able to speak and walk independently. We also reviewed data from three previously reported patients meeting our criteria. We identified five new patients with pathogenic FOXG1missense variants, primarily in the forkhead domain, showing varying nonspecific intellectual disability and developmental delay. These features are not typical of congenital Rett syndrome and were rarely associated with microcephaly and epilepsy. Our findings are consistent with a previous genotype–phenotype analysis by Mitter et al. suggesting the delineation of five different FOXG1genotype groups. Milder phenotypes were associated with missense variants in the forkhead domain. This information may facilitate prognostic assessments in children carrying a FOXG1variant and improve the interpretation of new variants identified with genomic sequencing.

Published
2024
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11. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

Author

Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, and Brusco A

Subjects
Animals, Mice, Humans, Haploinsufficiency genetics, Proteins genetics, Cell Cycle Proteins genetics, Autism Spectrum Disorder genetics, Attention Deficit Disorder with Hyperactivity, Induced Pluripotent Stem Cells, Neurodevelopmental Disorders complications, Neurodevelopmental Disorders genetics, Language Development Disorders
Abstract

We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM*601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation of neuronal mRNAs critical for synaptic plasticity, as well as mRNAs encoding proteins important for cell proliferation and migration in multiple cell types. We identified 12 cases with loss-of-function CAPRIN1 variants, and a neurodevelopmental phenotype characterized by language impairment/speech delay (100%), intellectual disability (83%), attention deficit hyperactivity disorder (82%) and autism spectrum disorder (67%). Affected individuals also had respiratory problems (50%), limb/skeletal anomalies (50%), developmental delay (42%) feeding difficulties (33%), seizures (33%) and ophthalmologic problems (33%). In patient-derived lymphoblasts and fibroblasts, we showed a monoallelic expression of the wild-type allele, and a reduction of the transcript and protein compatible with a half dose. To further study pathogenic mechanisms, we generated sCAPRIN1+/- human induced pluripotent stem cells via CRISPR-Cas9 mutagenesis and differentiated them into neuronal progenitor cells and cortical neurons. CAPRIN1 loss caused reduced neuronal processes, overall disruption of the neuronal organization and an increased neuronal degeneration. We also observed an alteration of mRNA translation in CAPRIN1+/- neurons, compatible with its suggested function as translational inhibitor. CAPRIN1+/- neurons also showed an impaired calcium signalling and increased oxidative stress, two mechanisms that may directly affect neuronal networks development, maintenance and function. According to what was previously observed in the mouse model, measurements of activity in CAPRIN1+/- neurons via micro-electrode arrays indicated lower spike rates and bursts, with an overall reduced activity. In conclusion, we demonstrate that CAPRIN1 haploinsufficiency causes a novel autosomal dominant neurodevelopmental disorder and identify morphological and functional alterations associated with this disorder in human neuronal models., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Published
2023
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