Aliases:
Chromosome No: 12
Chromosome Band: 12q24.33
Genetic Category: Syndromic-Rare single gene variant-Syndromic/Functional
ASD Reports: 6
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 5
Evidence score: 2
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Relevance to Autism
Ufartes et al., 2020 reported three individuals with truncating variants in the FBRSL1 gene presenting with a syndrome characterized by global developmental delay/intellectual disability, speech delay, autistic behavior, microcephaly, swallowing difficulties, postnatal growth retardation, skeletal abnormalities, respiratory failure, and dysmorphic features; Kastens et al., 2025 subsequently found that truncating FBRSL1 variants led to downregulation of BRPF1 and KAT6A in blood and fibroblasts derived from these patients. Additional individuals with truncating FBRSL1 variants presenting with similar phenotypes were reported in Bukvic et al., 2024 and Xu et al., 2025; Xu et al., 2025 also found that fbrsl1 zebrafish knockdown models recapitulated neurodevelopmental abnormalities, epileptiform discharges, and cardiac dysfunction.
Molecular Function
FBRSL1 is a paralog of AUTS2. Using chromatin immunoprecipitation followed by sequencing (ChIP-Seq), Kastens et al., 2025 demonstrated that FBRSL1 regulates the expression of the chromatin regulators BRPF1 and KAT6A, two epigenetic regulators involved in embryonic development and linked to neurodevelopmental disorders.
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