what type of mutation is fragile x syndrome
Fragile X syndrome Fragile X syndrome co-occurs with autism in many cases and is a suspected genetic cause of the autism in these cases.[8][15] This finding has resulted in screening for FMR1 mutation to be considered mandatory in children diagnosed with autism.[8] Of those with fragile X syndrome, prevalence of concurrent autism spectrum disorder (ASD) has been estimated to be between 15 and 60%, with the variation due to differences in diagnostic methods and the high frequency of autistic features in individuals with fragile X syndrome not meeting the DSM criteria for an ASD.[15]
Fragile X syndrome Fragile X syndrome is typically due to an expansion of the CGG triplet repeat within the Fragile X mental retardation 1 (FMR1) gene on the X chromosome.[1] This results in not enough fragile X mental retardation protein (FMRP), which is required for normal development of the connection between neurons.[1] Diagnosis is by genetic testing to determine the number of CGG repeats in the FMRI gene.[3] Normal is between 5 and 40 repeats, fragile X syndrome occurs with more than 200, and a premutation is said to be present when a middle number of repeats occur.[1] Testing for premutation carriers may allow for genetic counseling.[3]
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Alonso Álvarez de Pineda