Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

doi:10.1038/s41431-025-01937-3

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Article

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

European journal of human genetics : EJHG - 1 Dec 2025

Malbos Marlène, Gautier Thierry, Shillington Amelle, Colin Estelle, Le Guillou Xavier, Caluseriu Oana, Isidor Bertrand, Cogné Benjamin, Mignot Cyril, Keren Boris, Weber Sacha, Jacquin Clémence, Dudding Tracy, Calame Daniel, Piard Juliette, Levy Jonathan, Latypova Xenia, Verloes Alain, Niclass Tanguy, Jacquette Aurélia, White Lori, Moizard Marie-Pierre, Dollfus Hélène, Moutton Sébastien, Delanne Julian, Racine Caroline, Thomas Quentin, Denommé-Pichon Anne-Sophie, Tran Mau-Them Frédéric, Bruel Ange-Line, Safraou Hana, Philippe Christophe, Duffourd Yannis, Thauvin-Robinet Christel, Govin Jérôme, Vitobello Antonio, Faivre Laurence

Abstract excerpt

SAP102, a member of the membrane-associated guanylate kinase proteins family, is a scaffolding protein encoded by the DLG3 gene whose hemizygous variants with loss-of-function effect are associated with X-linked Intellectual developmental disorder 90. We gathered international data from 17 new individuals with 16 different DLG3 variants (10 with pathogenic loss-of-function and 6 variants of uncertain...

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PMID: 40983642
DOI: 10.1038/s41431-025-01937-3
PMCID: PMC12669677

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DLG3

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