Journal of Autism and Developmental Disorders

, Volume 45, Issue 11, pp 3764–3770 | Cite as

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

  • Heidi S. Lumish
  • Julia Wynn
  • Orrin Devinsky
  • Wendy K. ChungEmail author
Brief Report


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.


Autism spectrum disorder Autism SETD2 Intellectual disability Whole exome sequencing 



We thank the patient and her family for their contribution. This work was supported in part by NIH Grant 5 T35 DK 93430-2.

Conflict of interest

No potential conflict of interest was disclosed.

Informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study. Additional informed consent was obtained from all patients for whom identifying information is included in this article.


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.College of Physicians and SurgeonsColumbia UniversityNew YorkUSA
  2. 2.Department of PediatricsColumbia UniversityNew YorkUSA
  3. 3.Department of Neurology, Psychiatry, and NeurosurgeryNYU Langone Medical CenterNew YorkUSA
  4. 4.Department of Pediatrics and MedicineColumbia UniversityNew YorkUSA

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