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Articles by Thomas Besnard
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder
Abstract Poly(rC)-binding protein 1 (PCBP1), a splicing factor and key member of the hnRNP E family, was initially characterized for its tumor suppressive properties. More recently, its role in gene regulation in the brain and nervous system has attracted growing interest. Through an international multicenter collaboration, we identified 16 de novo pathogenic variants in PCBP1 across 17 subjects from 16 unrelated families.
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders - Nature Communications
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Abstract SF3B1 is an essential and ubiquitous splicing factor that plays a pivotal role in the early steps of pre-mRNA splicing. Recurrent somatic missense mutations in SF3B1 are frequent in cancers, but no constitutional variant has been reported so far. We describe here a cohort of 26 individuals with neurodevelopmental disorders, harbouring SF3B1 constitutional heterozygous variants that appeared mostly de novo.
By Changlian Zhu, Tony Roscioli, Frédéric Tran-Mau-Them, Laurence Faivre, Julien Maraval, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Celine Jost, Claudia Gonzaga-Jauregui, Michael C Kruer, Somayeh Bakhtiari, Patrick Sulem, Theresa Brunet, Melissa J. MacPherson, Kosuke Izumi, Dong Li, Elaine Zackai, Ian Glass, Philippe M Campeau, Hilde Van Esch, Liesbeth De Waele, James R. Lupski, Cristina Peduto, Lucie Dupuis, Roberto Mendoza-Londono, Thomas Besnard, Benjamin Cogné, Stéphane Bézieau, Arnaud Droit, Eric Lippert, Sébastien Küry, Pauline Planté-Bordeneuve
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Nature
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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders
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Keywords RNA processing spliceosome assembly gene regulation genetic variants brain development neurodevelopment SF1 splicing factor intelle Get full text access Log in, subscribe or purchase for full access. References 1. Kochinke, K. ∙ Zweier, C. ∙ Nijhof, B. ... Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules Am. J. Hum. Genet. 2016; 98:149-164 2. Chen, Y. ∙ Dawes, R. ∙ Kim, H.C. ...
By Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie, Marion Lesieur-Sebellin, Solveig Heide, Chloé Quélin, François Lecoquierre, Mathilde Nizon, Bertrand Isidor, Thomas Besnard, Benjamin Cogné, Xenia Latypova, Jonathan Levy, Pascal Joset, Katharina Steindl, María Palomares-Bralo, Fernando Santos-Simarro, Mary Thomas, Amina Abubakar, Sally Lynch, Amelie J. Müller, Tobias B. Haack, Martin Zenker, Michael Parker, Michael Spiller, Renarta Crookes, Muriel Holder-Espinasse, Allan Bayat, Rikke S Møller, Tomasz Stanislaw Mieszczanek, Julien Buratti, Pierre Marijon, Ryan Gavin Verified, Carlos Cid Parras, Bassem A. Hassan, Cyril Mignot, Laila El Khattabi, Elodie Lejeune, Emma Clossick, Sabir Ataf
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The American Journal of Human Genetics
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Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities
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Keywords TM2D3 neurodevelopmental disorder endoplasmic reticulum mitochondria ER stress mitochondrial dynamics microcephaly extracellular matrix Get full text access Log in, subscribe or purchase for full access. References 1. Parenti, I. ∙ Rabaneda, L.G. ∙ Schoen, H. ... Neurodevelopmental Disorders: From Genetics to Functional Pathways Trends Neurosci. 2020; 43:608-621 2. Mellone, S. ∙ Puricelli, C. ∙ Vurchio, D. ...
By Claudie Gabillard-Lefort, Caroline Martinez, Naïg Gueguen, Louis Legoff, Anne Guimier, Sophie Rondeau, Giulia Barcia, Christine Barnerias, Benjamin Cogné, Thomas Besnard, Jessica Douglas, Olaf A Bodamer, Annalisa Vetro, Renzo Guerrini, Simona Balestrini, Valerio Conti, Laura Siri, Arnaud Chevrollier, Estelle Colin, Vincent Procaccio, Guy Lenaers, Salim Khiati, Mathilde Nizon, Olivier R. Baris, Valérie Desquiret-Dumas, Méline Wery, Elsa Lorino, Céline Bris, Delphine Prunier-Mirebeau
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The American Journal of Human Genetics
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
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Keywords BCL11B C2H2-type zinc finger protein recognition code genotype-phenotype correlation type 2 innate lymphoid cells Introduction Proteins containing a Cys2-His2 zinc-finger domain (C2H2-ZnF) constitute the largest class of human transcription factors.1 They act by either repressing or activating the expression of target genes through binding a specific DNA sequence by their tandem and modular C2H2-ZnFs. Each C2H2-ZnF shares a consensus sequence that folds in the presence of zinc (Zn2+)...
By Ivan K. Chinn, Jonathan May, Anu Goenka, Kate Chandler, Jennifer E. Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Melanie Brugger, Theresa Brunet, Susan Byrne, Valeria Capra, Paúl Cárdenas, Celine Chappe, Hey J. Chong, Benjamin Cogné, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi Fitzgerald, Silvana Gangi, Muge Gucsavas-Calikoglu, Tobias B. Haack, Maria Iascone, Bertrand Isidor, Jay J. Jin, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, Heike Kölbel, Christian Kubisch, Suzanne Leal, Gholson J. Lyon, Suneeta Madan-Khetarpal, Elaine Marchi, Beatriz Menéndez, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Konrad Platzer, Rachel A. Rabin, Aisha Rekab, Ferruccio Romano, Isabelle Schrauwen, John Short Verified, Richard Sidlow, Jennifer Sullivan, Katalin Szakszon, Queenie Tan, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R. Lupski, Eva Tolosa, Davor Lessel, Ivana Lessel, Anja Baresic, Rae Brager, Lauren Brick, Jaya K. George-Abraham, Medard Hadonou, Britta Hanker, Irina Hüning, Irma Järvelä, Alexander A.L. Jorge, Elena Kessler, Mariya Kozenko, Alma Kuechler, Juha Leppälä, Sharon M. Luu, Margherita Mancardi, Lakshmi Mehta, Chantal F. Morel, Sue Moyer Harasink, Dayna-Lynn Nevay, Matthew T. Pastore, Yezmin Perilla-Young, Nina Powell-Hamilton, Raissa C. Rezende, Leema Robert, Karin Poths, Jessica Sebastian
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The American Journal of Human Genetics
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Purplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in WDR81
A girl, born to unrelated healthy Caucasian parents, presented since birth with severe epileptic encephalopathy. Her neurological development was extremely deficient. Brain magnetic resonance imaging displayed severe microencephaly with hypoplasia of the corpus callosum. During her childhood, she developed numerous infections (such as aspiration pneumonia) related to her neurological condition.
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