Fragile X syndrome: a review of clinical and molecular diagnoses

摘要: Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and most prevalent in males, affecting 1:5000–7000 men 1:4000–6000 women. It caused by an alteration FMR1 gene, which maps at Xq27.3 band: more than 99% individuals have a CGG expansion (>200 triplets) 5′ UTR mutations duplication/deletion are responsible for remaining (<1%) molecular diagnoses FXS. The aim this review was to gather current clinical knowledge about FXS provide clinicians with tool guide initial assessment follow-up offer laboratory workers researchers update diagnostic procedures. well-known condition; however, studies thus far focused on neuropsychiatric features. Unfortunately, some available limitations, such as paucity patients enrolled or bias due collection data single-country population, may be not representative average global population. In recent years, insight into adult presentation disease has progressively increased. Pharmacological treatment essentially symptom based, but growing understanding biological mechanisms paving way targeted therapy, reverse effects FMRP deficiency real cure itself, just its symptoms. spectrum wide, presenting only isolated multi-systemic condition, involving predominantly central nervous system potentially any apparatus. Given relative high frequency condition complex management, appears important economic social burden.