Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous
MYT1L
autism spectrum disorder (ASD)
de novo
neurodevelopmental disorder
single nucleotide variant (SNV)
whole genome sequencing (WGS)
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
24 Nov 2023
24 Nov 2023
Historique:
received:
31
10
2023
revised:
20
11
2023
accepted:
20
11
2023
medline:
23
12
2023
pubmed:
23
12
2023
entrez:
23
12
2023
Statut:
epublish
Résumé
Autism spectrum disorder (ASD) comprises a group of complex neurodevelopmental features seen in many different forms due to variable causes. Highly impactful ASD-susceptibility genes are involved in pathways associated with brain development, chromatin remodeling, and transcription regulation. In this study, we investigate a proband with complex ASD. Whole genome sequencing revealed a novel de novo missense mutation of a highly conserved amino acid residue (NP_001289981.1:p.His516Gln; chr2:1917275; hg38) in the
Identifiants
pubmed: 38136944
pii: genes14122122
doi: 10.3390/genes14122122
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Genome British Columbia
ID : B22ITG