2. Academic Validation
  3. Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy

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

  • J Autism Dev Disord. 2015 Nov;45(11):3764-70. doi: 10.1007/s10803-015-2484-8.
Heidi S Lumish 1,  Julia Wynn 2,  Orrin Devinsky 3,  Wendy K Chung 4
Affiliations

Affiliations

  • 1 College of Physicians and Surgeons, Columbia University, New York, NY, USA.
  • 2 Department of Pediatrics, Columbia University, New York, NY, USA.
  • 3 Department of Neurology, Psychiatry, and Neurosurgery, NYU Langone Medical Center, New York, NY, USA.
  • 4 Department of Pediatrics and Medicine, Columbia University, 1150 St. Nicholas Avenue, Room 620, New York, NY, 10032, USA. wkc15@columbia.edu.
PMID: 26084711 DOI: 10.1007/s10803-015-2484-8
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.

Figures