Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Journal
Research square
Titre abrégé: Res Sq
Pays: United States
ID NLM: 101768035
Informations de publication
Date de publication:
28 Oct 2023
28 Oct 2023
Historique:
pubmed:
14
11
2023
medline:
14
11
2023
entrez:
14
11
2023
Statut:
epublish
Résumé
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We have performed whole genome and/or exome sequencing (WGS and WES) and SNP-array analysis to identify both rare sequence and copy number variants (SNVs and CNVs) in 435 individuals from 116 ASD families. We identified 37 rare potentially damaging de novo SNVs (pdSNVs) in cases (n = 144). Interestingly, two of them (one stop-gain and one missense variant) occurred in the same gene, BRSK2. Moreover, the identification of 9 severe de novo pdSNVs in genes not previously implicated in ASD (
Identifiants
pubmed: 37961520
doi: 10.21203/rs.3.rs-3468592/v1
pmc: PMC10635364
pii:
doi:
Types de publication
Preprint
Langues
eng
Subventions
Organisme : NHGRI NIH HHS
ID : U24 HG008956
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG008901
Pays : United States
Déclaration de conflit d'intérêts
Conflict of Interest MCZ declares to be a shareholder in Abbott, Abbvie, BMS, Merck, Pfizer, Thermo Fisher, and J&J.
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