FRA10AC1 is a nuclear protein functioning as a peripheral component of the spliceosomal C complex involved in pre-mRNA splicing 1. The gene contains a polymorphic CGG trinucleotide repeat in its 5'UTR that can expand beyond 200 repeats, leading to DNA hypermethylation and gene silencing—a mechanism implicated in neurodevelopmental disorders 23. FRA10AC1 interacts with other spliceosomal proteins including ESS2 and DGCR14, forming a dense protein interaction network with disease-associated splicing factors 4. Biallelic pathogenic variants in FRA10AC1 cause a neurodevelopmental disorder characterized by developmental delay, intellectual disability, microcephaly, corpus callosum hypoplasia or agenesis, growth retardation, and craniofacial dysmorphism 15. Additional features may include skeletal defects, congenital heart disease, renal anomalies, and ocular abnormalities 5. Loss-of-function variants result in drastically reduced or absent FRA10AC1 expression, while missense variants can impair protein stability 1. The disorder represents a spliceosomopathy where disrupted pre-mRNA processing likely contributes to neurodevelopmental pathology, though FRA10AC1 may possess additional cellular functions coupling transcription and splicing 1.