Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder.
A never-before-seen SATL1 mutation may trigger late-onset autism in rare cases, adding a new genetic thread to the ASD puzzle.
01Research in Context
What this study did
Doctors sequenced DNA from two Ethiopian school-age boys who showed late-onset autism.
Both boys carried the same brand-new mutation in a gene called SATL1.
The team wrote up the pair as a case series to flag the mutation for further study.
What they found
The SATL1 mutation knocks out a protein that helps cells manage stress and growth.
No other reports link this gene to autism, so it may explain a rare slice of late-onset cases.
How this fits with other research
Liyew et al. (2025) looked at 145 Ethiopian kids and mapped five clear sensory-cognitive patterns.
Their bigger, broader sample now supersedes this tiny two-boy series and gives you a fuller picture.
Limoges et al. (2013) found poor sleep hurt thinking speed in young autistic adults.
That sleep link seems to contradict our gene story, but the kids here are younger and sleep was not even checked—so both papers can be true at once.
Laugeson et al. (2014) argued autism splinters into separate cognitive routes; our gene finding adds a fresh biological route to that idea.
Why it matters
If you assess an Ethiopian child whose autism appears after age six, ask the medical team about genetic testing. A SATL1 finding won’t change your ABA plan today, but it alerts families to a possible stress-response weakness and builds data for future targets.
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02At a glance
03Original 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. Although SATL1 mutations have not been associated with any human diseases, our data suggests that a mutation in SATL1 is the underlying cause of ASD in our cases. In mammals, mutations in spermine synthase (SMS), an enzyme needed for the synthesis of spermidine polyamine, have been reported in a syndromic form of the X-linked mental retardation. Moreover, SATL1 gene expression studies showed a relatively higher expression of SATL1 transcripts in ASD related parts of the brain including the cerebellum, amygdala and frontal cortex. Additionally, spermidine has been characterized in the context of learning and memory and supplementations with spermidine increase neuroprotective effects and decrease age-induced memory impairment. Furthermore, spermidine biosynthesis is required for spontaneous axonal regeneration and prevents α-synuclein neurotoxicity in invertebrate models. Thus, we report, for the first time, that a mutation in the SATL1 gene could be a contributing factor in the development of autistic symptoms in our patients.
Scientific Reports, 2024 · doi:10.1038/s41598-024-56253-5