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

• Published in: Journal of autism and developmental disorders Vol. 45; no. 11; pp. 3764 - 3770
• Main Authors: Lumish, Heidi S., Wynn, Julia, Devinsky, Orrin, Chung, Wendy K.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.11.2015; Springer; Springer Nature B.V
• Subjects: Adolescent; Adolescents; Autism; Autism Spectrum Disorder - complications; Autism Spectrum Disorder - genetics; Autism Spectrum Disorders; Autistic children; Behavioral Science and Psychology; Body Weight; Brain; Brief Report; Candidates; Care and treatment; Child and School Psychology; Child Health; Children with disabilities; Coding; Convulsions & seizures; Departments; Development and progression; Developmental Delays; Disability; Emotional distress; Emotional regulation; Epilepsy; Epilepsy - complications; Epilepsy - genetics; Exome sequencing; Family (Sociological Unit); Female; Females; Gene mutation; Genes; Genetics; Height; Histone-Lysine N-Methyltransferase - genetics; Humans; Intellectual disabilities; Intellectual Disability; Intellectual Disability - complications; Intellectual Disability - genetics; Intelligence Quotient; Learning disabilities; Mutation; Neurosciences; Obesity; Pediatrics; Pervasive Developmental Disorders; Psychological distress; Psychology; Public Health; Rare diseases; Risk factors; Seizures; Short stature; United States; New York; United States > US; Autism; SETD2; Intellectual disability; Whole exome sequencing; Autism spectrum disorder
• ISSN: 0162-3257; 1573-3432
• DOI: 10.1007/s10803-015-2484-8

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 .