Abstract
BackgroundAutism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders. Genetically based subtype identification may prove more beneficial not only in illuminating the course and prognosis, but also for individualized treatment targets of an ASD sub-group. Increasing evidence has shown that de novo loss-of-function mutations in the chromodomain helicase DNA-binding protein 8 (CHD8) gene are associated with an ASD sub-group.Case presentationHere we describe two ASD cases in children with mild intellectual disability, early motor deficits, and speech delay, without distinct structural or EEG brain anomalies. Exome sequencing revealed a novel heterozygous nonsense/missense mutations(c.2647C > A/p.E883X and c.1677C > A/p.M559I respectively) in CHD8 gene.ConclusionsThere were few cases in the literature reporting de novo mutation of CHD8 in ASD. As demonstrated in our patients, along with other previously reported studies support that disruption of the CHD8 gene represents a specific genetic sub-type of ASD.
Highlights
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders
This provides additional evidence that disruption of the chromodomain helicase DNA-binding protein 8 (CHD8) gene could result in the development of ASD
Increasing evidences from exome sequencing to targeted analysis have showed that de novo loss-of-function mutations in the CHD8 gene are associated with ASD [7,8,9,10, 17, 19]
Summary
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders. It has been reported that CHD8 mutations could result in a behavioral profile consistent with ASD, together with macrocephaly, distinct facial features, and gastrointestinal complaints [17]. We report two cases of children with ASD and global developmental delays diagnosed based on the clinical findings and confirmed by genetic tests with a de novo mutation of CHD8 that has not been previously reported.
Sign-in/Register to view highlights & summary 
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call