학술논문
De novo variants in SP9cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
Document Type
Article
Author
Tessarech, Marine; Friocourt, Gaëlle; Marguet, Florent; Lecointre, Maryline; Le Mao, Morgane; Díaz, Rodrigo Muñoz; Mignot, Cyril; Keren, Boris; Héron, Bénédicte; De Bie, Charlotte; Van Gassen, Koen; Loisel, Didier; Delorme, Benoit; Syrbe, Steffen; Klabunde-Cherwon, Annick; Jamra, Rami Abou; Wegler, Meret; Callewaert, Bert; Dheedene, Annelies; Zidane-Marinnes, Merzouka; Guichet, Agnès; Bris, Céline; Van Bogaert, Patrick; Biquard, Florence; Lenaers, Guy; Marcorelles, Pascale; Ferec, Claude; Gonzalez, Bruno; Procaccio, Vincent; Vitobello, Antonio; Bonneau, Dominique; Laquerriere, Annie; Khiati, Salim; Colin, Estelle
Source
Genetics in Medicine; May 2024, Vol. 26 Issue: 5
Subject
Language
ISSN
10983600; 15300366
Abstract
Interneuronopathies are a group of neurodevelopmental disorders characterized by deficient migration and differentiation of gamma-aminobutyric acidergic interneurons resulting in a broad clinical spectrum, including autism spectrum disorders, early-onset epileptic encephalopathy, intellectual disability, and schizophrenic disorders. SP9 is a transcription factor belonging to the Krüppel-like factor and specificity protein family, the members of which harbor highly conserved DNA-binding domains. SP9plays a central role in interneuron development and tangential migration, but it has not yet been implicated in a human neurodevelopmental disorder.