It is thought that<unk>  X syndrome is caused by mutation in a gene, specifically FMR1 gene present on X chromosome. The CGG triplet repetition leads to hypermethylation of the gene, which ultimately leads to silencing of the FMR1 gene. The FMR1 gene codes for protein responsible for brain development. Due to this defect, the normal neuron development is affected.
Fragile X syndrome pathophysiology
Lesch-Nyhan syndrome pathophysiology
Asperger syndrome pathophysiology
Autism pathophysiology
Tuberous sclerosis pathophysiology
Biliary dyskinesia pathophysiology
Lesch-Nyhan syndrome epidemiology and demographics
Fragile X syndrome risk factors