Research Information System
Istanbul Tip Fakultesi Dergisi, vol.88, no.3, pp.236-242, 2025 (ESCI, Scopus, TRDizin)
Objective: Fragile X Syndrome (FXS) is a complex neurodevelopmental condition characterised by delayed speech development, dysmorphic features, and impaired cognitive development. FXS, which results from CGG repeat expansion in the FMR1 gene, is one of the most commonly identified genetic cause of autism. Accurate diagnosis of FXS is crucial for effective management and treatment. This study aimed to evaluate the prevalence of FXS in individuals with Autism Spectrum Disorder (ASD). Material and Methods: We conducted a retrospective study involving 50 patients. Comprehensive fragment analysis of the FMR1 gene was performed, with repeat sequences classified according to the stringent guidelines established by American College of Medical Genetics and Genomics (ACMG), Clinical Molecular Genetics Society (CMGS) ve European Society of Human Genetics (ESHG). Results: FXS was identified in three individuals (6%) within the study cohort. This finding aligns with previous reports indicating prevalence rates between 2% and 8% among ASD populations, thereby confirming the significance of our results. Conclusion: The overlapping symptoms of FXS and idiopathic autism present diagnostic challenges, highlighting the importance of identifying FXS to implement targeted therapies. Family history is critical in identifying at-risk individuals, as FXS can lead to varied manifestations in family members, including ataxia and early menopause. Although this study provides valuable insights, the limited sample size underscores the need for larger-scale research. Advanced genetic investigations and comprehensive panels could further aid in identifying additional causes of autism.