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What is Understanding Fragile X Syndrome Basics about?

Fragile X syndrome is caused by a mutation on the X chromosome involving an expansion of the CGG nucleotide repeat in the FMR1 gene. This prevents production of the FMRP protein essential for normal brain development. Individuals with over 200 CGG repeats have the full mutation and experience intellectual disabilities and behavioral issues. Symptoms vary by gender, with males generally more severely affected than females. While there is no cure, treatment focuses on therapies to address delays and behaviora

Author

Manisanthosh Kumar

Language

EN