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Gepubliceerd in: Journal of Autism and Developmental Disorders 11/2015

18-06-2015 | Brief Report

Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy

Auteurs: Heidi S. Lumish, Julia Wynn, Orrin Devinsky, Wendy K. Chung

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 11/2015

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Abstract

Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a 17-year-old girl with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature. She was found by WES to have a de novo c.2028delT (P677LfsX19) mutation in the SET domain-containing protein 2 (SETD2) gene, predicted to be gene-damaging. This case offers evidence for the potential the role of SETD2 in ASD and ID and provides further detail about the phenotypic manifestations of mutations in SETD2.
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Metagegevens
Titel
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy
Auteurs
Heidi S. Lumish
Julia Wynn
Orrin Devinsky
Wendy K. Chung
Publicatiedatum
18-06-2015
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 11/2015
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-015-2484-8

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