Article
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
European journal of human genetics : EJHG - 1 Jun 2020
Nambot Sophie, Faivre Laurence, Mirzaa Ghayda, Thevenon Julien, Bruel Ange-Line, Mosca-Boidron Anne-Laure, Masurel-Paulet Alice, Goldenberg Alice, Le Meur Nathalie, Charollais Aude, Mignot Cyril, Petit Florence, Rossi Massimiliano, Metreau Julia, Layet Valérie, Amram Daniel, Boute-Bénéjean Odile, Bhoj Elizabeth, Cousin Margot A, Kruisselbrink Teresa M, Lanpher Brendan C, Klee Eric W, Fiala Elise, Grange Dorothy K, Meschino Wendy S, Hiatt Susan M, Cooper Gregory M, Olivié Hilde, Smith Wendy E, Dumas Meghan, Lehman Anna, Inglese Cara, Nizon Mathilde, Guerrini Renzo, Vetro Annalisa, Kaplan Eitan S, Miramar Dolores, Van Gils Julien, Fergelot Patricia, Bodamer Olaf, Herkert Johanna C, Pajusalu Sander, Õunap Katrin, Filiano James J, Smol Thomas, Piton Amélie, Gérard Bénédicte, Chantot-Bastaraud Sandra, Bienvenu Thierry, Li Dong, Juusola Jane, Devriendt Koen, Bilan Frederic, Poé Charlotte, Chevarin Martin, Jouan Thibaud, Tisserant Emilie, Rivière Jean-Baptiste, Tran Mau-Them Frédéric, Philippe Christophe, Duffourd Yannis, Dobyns William B, Hevner Robert, Thauvin-Robinet Christel
Abstract excerpt
TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1 has only recently been recorded as a human disease gene in the OMIM database. Currently, the...
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