Thelansis

  Fragile X syndrome (FXS) is a rare genetic disorder with a wide range of symptoms, affecting both males and females. In males, it typically manifests in childhood with delayed development, varying degrees of intellectual deficits, and potential behavioral issues. These behaviors can range from mild anxiety and mood swings to more severe problems like aggression and autism-like traits such as hand flapping and gaze avoidance. In contrast, females usually experience milder intellectual and behavioral challenges, often marked by shyness and social anxiety. The underlying cause of FXS is the silencing of the FMR1 gene on the X chromosome, primarily due to the expansion and methylation of CGG trinucleotide repeats in its 5'-untranslated region. This gene codes for the FMRP protein, which regulates protein synthesis in neurons, impacting synaptic plasticity in various brain regions, including the hippocampus. Physical features associated with FXS include a high forehead, large ears, hy...