ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.

doi:10.1016/j.gim.2023.100971

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Article

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2023

Poggio Elena, Barazzuol Lucia, Salmaso Andrea, Milani Celeste, Deligiannopoulou Adamantia, Cazorla Ángeles García, Jang Se Song, Juliá-Palacios Natalia, Keren Boris, Kopajtich Robert, Lynch Sally Ann, Mignot Cyril, Moorwood Catherine, Neuhofer Christiane, Nigro Vincenzo, Oostra Anna, Prokisch Holger, Saillour Virginie, Schuermans Nika, Torella Annalaura, Verloo Patrick, Yazbeck Elise, Zollino Marcella, Jech Robert, Winkelmann Juliane, Necpal Jan, Calì Tito, Brini Marisa, Zech Michael

Abstract excerpt

PURPOSE: ATP2B2 encodes the variant-constrained plasma-membrane calcium-transporting ATPase-2, expressed in sensory ear cells and specialized neurons. ATP2B2/Atp2b2 variants were previously linked to isolated hearing loss in patients and neurodevelopmental deficits with ataxia in mice. We aimed to establish the association between ATP2B2 and human neurological disorders. METHODS: Multinational case recruitment,...

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PMID: 37675773
DOI: 10.1016/j.gim.2023.100971

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