Discovering the ANK2-related autism phenotype.

Guissart, Claire; Polge, Anne; Durand, Nelly; Miret, Ania; Lumbroso, Serge; Francannet, Christine; Mouzat, Kevin

Guissart, Claire; Polge, Anne; Durand, Nelly; Miret, Ania; Lumbroso, Serge; Francannet, Christine; Mouzat, Kevin.

Afiliación

Guissart C; Laboratoire de Biochimie et Biologie Moléculaire, CHU Nîmes, University of Montpellier, Nîmes, France.
Polge A; Laboratoire de Biochimie et Biologie Moléculaire, CHU Nîmes, University of Montpellier, Nîmes, France.
Durand N; Service de Génétique, CHU Estaing, Clermont-Ferrand, France.
Miret A; Service de Génétique, CHU Estaing, Clermont-Ferrand, France.
Lumbroso S; Laboratoire de Biochimie et Biologie Moléculaire, CHU Nîmes, University of Montpellier, Nîmes, France.
Francannet C; Service de Génétique, CHU Estaing, Clermont-Ferrand, France.
Mouzat K; Laboratoire de Biochimie et Biologie Moléculaire, CHU Nîmes, University of Montpellier, Nîmes, France.

Clin Genet ; 104(3): 384-386, 2023 09.

Article en En | MEDLINE | ID: mdl-37088467

RESUMEN

Interestingly, disease-causing mutations in the ANK2 gene have been identified in patients with autism since 2012, though with no full clinical description. In this Research Letter, for the first time, we describe the detailed characteristics of a patient with autism caused by a new mutation in this gene. Our report is a first step to better understanding ANK2-related autism and will contribute to facilitating its further diagnosis.

Asunto(s)

Trastorno del Espectro Autista; Trastorno Autístico; Humanos; Trastorno Autístico/genética; Mutación; Fenotipo; Trastorno del Espectro Autista/genética; Ancirinas/genética

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Trastorno del Espectro Autista Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Dinamarca

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