{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Alayoubi AM"],"funding":["King Salman Center for Disability Research"],"pagination":["5765"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10923806"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(1)"],"pubmed_abstract":["Autism spectrum disorder (ASD) is a complicated, lifelong neurodevelopmental disorder affecting verbal and non-verbal communication and social interactions. ASD signs and symptoms appear early in development before the age of 3 years. It is unlikely for a person to acquire autism after a period of normal development. However, we encountered an 8-year-old child who developed ASD later in life although his developmental milestones were normal at the beginning of life. Sequencing the complete coding part of the genome identified a hemizygous nonsense mutation (NM_001367857.2):c.1803C>G; (p.Tyr601Ter) in the gene (SATL1) encoding spermidine/spermine N1-acetyl transferase like 1. Screening an ASD cohort of 28 isolated patients for the SATL1 gene identified another patient with the same variant."],"journal":["Scientific reports"],"pubmed_title":["Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder."],"pmcid":["PMC10923806"],"funding_grant_id":["KSRG-2022-088"],"pubmed_authors":["Alayadhi L","Alayoubi AM","Basit S","Aman H","Al-Regaiey K","Hashmi JA","Iqbal M"],"additional_accession":[]},"is_claimable":false,"name":"Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder.","description":"Autism spectrum disorder (ASD) is a complicated, lifelong neurodevelopmental disorder affecting verbal and non-verbal communication and social interactions. ASD signs and symptoms appear early in development before the age of 3 years. It is unlikely for a person to acquire autism after a period of normal development. However, we encountered an 8-year-old child who developed ASD later in life although his developmental milestones were normal at the beginning of life. Sequencing the complete coding part of the genome identified a hemizygous nonsense mutation (NM_001367857.2):c.1803C>G; (p.Tyr601Ter) in the gene (SATL1) encoding spermidine/spermine N1-acetyl transferase like 1. Screening an ASD cohort of 28 isolated patients for the SATL1 gene identified another patient with the same variant.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2025-06-01T02:15:35.272Z","creation":"2024-11-14T22:25:03.212Z"},"accession":"S-EPMC10923806","cross_references":{"pubmed":["38459140"],"doi":["10.1038/s41598-024-56253-5"]}}