Fragile X syndrome pathophysiology

Fragile X syndrome Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

It is thought that Fragile X syndrome is caused by changes in a gene, specifically FMR1 gene. The FMR1 gene codes for protein responsible for brain development.

Pathophysiology

Fragile x syndrome has an x-linked dominant inheritance. It is caused by an expansion of CGG trinucleotide repeat within 5' UTR in FMR1 gene on X chromosome. Due to high number of CGG repeats (>200), this leads to methylation of part of gene on X chromosome that codes for Fragile X Mental retardation protein (FMRP), which is required for proper development of connections between neurons.