title: Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
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.
authors.affiliation: College of Physicians and Surgeons, Columbia University, New York, NY, USA.
authors.forename: Heidi S
authors.initials: HS
authors.lastname: Lumish
authors.affiliation: Department of Pediatrics, Columbia University, New York, NY, USA.
authors.forename: Julia
authors.initials: J
authors.lastname: Wynn
authors.affiliation: Department of Neurology, Psychiatry, and Neurosurgery, NYU Langone Medical Center, New York, NY, USA.
authors.forename: Orrin
authors.initials: O
authors.lastname: Devinsky
authors.affiliation: Department of Pediatrics and Medicine, Columbia University, 1150 St. Nicholas Avenue, Room 620, New York, NY, 10032, USA. wkc15@columbia.edu.
authors.forename: Wendy K
authors.identifier: http://orcid.org/0000-0003-3438-5685
authors.initials: WK
authors.lastname: Chung
mesh_terms: D000293:Adolescent; D000067877:Autism Spectrum Disorder / Q000150:complications* / Q000235:genetics*; D004827:Epilepsy / Q000150:complications* / Q000235:genetics*; D005260:Female; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics*; D009154:Mutation
chemical_list: D011495:Histone-Lysine N-Methyltransferase; C521636:SETD2 protein, human
keywords: Autism; Autism spectrum disorder; Intellectual disability; SETD2; Whole exome sequencing