ArticleJournal of human genetics2020
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism.
Article in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Identification of cell specific biomarkers for intellectual disability via single cell RNA sequencing and transcriptomic bioinformatics approaches.Scientific reports · 2025Article
- The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.NPJ genomic medicine · 2024Article
- Activation-Free Sulfonyl Fluoride Probes for Fragment Screening.Molecules (Basel, Switzerland) · 2023Article
- Correlated evolution of social organization and lifespan in mammals.Nature communications · 2023Article
- Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.Human molecular genetics · 2023Article
- Comparative analysis of the autism‑related variants between different autistic children in a family pedigree.Molecular medicine reports · 2021Article
- Alternatively Splicing Interactomes Identify Novel Isoform-Specific Partners for NSD2.Frontiers in cell and developmental biology · 2021Article
- De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders.Cold Spring Harbor molecular case studies · 2020Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with heterogeneity in presentation, genetic etiology, and clinical outcome. Although numerous ASD susceptibility genes have been described, they only account for a small fraction of the estimated heritability, supporting the need to identify more risk variants. This study reports the whole exome sequencing for 24 simplex families with sporadic cases of ASD. These families were selected following a rigorous family history study designed to exclude families with any history of neurodevelopmental or psychiatric disease. Fifteen rare, de novo variants, including fourteen missense variants and one splicing variant, in thirteen families were identified. We describe a splicing variant in XRCC6 which was predicted to destroy the 5' splice site in intron 9 and introduce a premature stop codon. We observed intron 9 retention in XRCC6 transcripts and reduced XRCC6 expression in the proband. Reduced XRCC6 activity and function may be relevant to ASD etiology due to XRCC6's role in nonhomologous DNA repair and interactions of the C-terminal SAP domain with DEAF1, a nuclear transcriptional regulator that is important during embryonic development.
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