De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.

doi:10.1016/j.gim.2024.101087

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Article

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2024

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

Abstract excerpt

PURPOSE: 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...

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PMID: 38288683
DOI: 10.1016/j.gim.2024.101087

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