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Journal of Autism and Developmental Disorders

Gepubliceerd in:

28-04-2021 | Letter to the Editor

Case Report: Association of Comorbid Psychiatric Disorders and Sigmoid Prolapse with de novo POGZ Mutation

Auteurs: Cary M. Wright, Stephen J. Guter, Edwin H. Cook

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 3/2022

Excerpt

In recent years, the Pogo transposable element derived with ZNF domain (POGZ) gene has been identified as one of the most well-supported genes contributing to risk for autism spectrum disorder (ASD) (Satterstrom et al., 2020), as part of the White Sutton syndrome (Matsumura et al., 2020; Stessman et al., 2016). The encoded heterochromatin protein contains zinc fingers that include a DDE domain thought to regulate gene expression. Induced de novo mutations impaired neuronal development in mice (Matsumura et al., 2020) and several studies have noted neurodevelopmental disorders, including microcephaly, sensorineural hearing loss, and epilepsy (Dentici et al., 2017; Samanta et al., 2020). To date, more than 50 patients have been reported in the literature with variants in various locations on POGZ and corresponding phenotypic features. …

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Titel: Case Report: Association of Comorbid Psychiatric Disorders and Sigmoid Prolapse with de novo POGZ Mutation
Auteurs: Cary M. Wright
Stephen J. Guter
Edwin H. Cook
Publicatiedatum: 28-04-2021
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 3/2022
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-021-05032-6

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