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What is Fragile X Syndrome: FMR1 Mutation Insights about?

Fragile X syndrome is an X-linked disorder caused by mutations in the FMR1 gene, leading to intellectual disability and behavioral abnormalities, with a prevalence of 16 to 25 per 100,000 in males. The condition arises from triplet repeat expansions, primarily transmitted through maternal lineage, and exhibits genetic anticipation in affected families. Management focuses on educational interventions and pharmacological treatment, as no curative therapies currently exist.

Author

Yuly stefany Gonzalez

Language

EN