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Case Reports
. 2015 Nov;45(11):3764-70.
doi: 10.1007/s10803-015-2484-8.

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

Heidi S Lumish  1 , Julia Wynn  2 , Orrin Devinsky  3 , Wendy K Chung  4
Affiliations
Case Reports

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

Heidi S Lumish et al. J Autism Dev Disord. 2015 Nov.

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.

Keywords: Autism; Autism spectrum disorder; Intellectual disability; SETD2; Whole exome sequencing.

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