ERIC Number: EJ1078610
Record Type: Journal
Publication Date: 2015-Nov
Abstractor: As Provided
Reference Count: 28
Brief Report: "SETD2" Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy
Lumish, Heidi S.; Wynn, Julia; Devinsky, Orrin; Chung, Wendy K.
Journal of Autism and Developmental Disorders, v45 n11 p3764-3770 Nov 2015
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."
Descriptors: Autism, Pervasive Developmental Disorders, Intellectual Disability, Epilepsy, Genetics, Adolescents, Females, Developmental Delays, Seizures
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Authoring Institution: N/A