8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder.
Nele CosemansJarymke MaljaarsAnnick VogelsMaureen HolvoetKoen DevriendtJean SteyaertKris Van Den BogaertIlse NoensHilde PeetersPublished in: Neurogenetics (2021)
A de novo 0.95 Mb 8p21.3 deletion had been identified in an individual with non-syndromic autism spectrum disorder (ASD) through high-resolution copy number variant analysis. Subsequent screening of in-house and publicly available databases resulted in the identification of six additional individuals with 8p21.3 deletions. Through case-based reasoning, we conclude that 8p21.3 deletions are rare causes of non-syndromic neurodevelopmental and neuropsychiatric disorders. Based on literature data, we highlight six genes within the region of minimal overlap as potential ASD genes or genes for neuropsychiatric disorders: DMTN, EGR3, FGF17, LGI3, PHYHIP, and PPP3CC.
Keyphrases
- autism spectrum disorder
- intellectual disability
- genome wide
- copy number
- bioinformatics analysis
- attention deficit hyperactivity disorder
- high resolution
- mitochondrial dna
- dna methylation
- genome wide identification
- big data
- systematic review
- gene expression
- electronic health record
- genome wide analysis
- mass spectrometry
- risk assessment
- data analysis
- transcription factor