How do Changes in Brain Anatomy Cause Fragile X Syndrome?
Fragile X syndrome occurs because a mutation in the FMR1 (fragile X mental retardation 1) gene blocks the synthesis of FMRP (fragile X mental retardation protein). While that is important information, it doesn’t explain why the absence of a particular protein results in a wide range of behavioral, cognitive, and physical characteristics. Since a major impact of fragile X is on mental function, researchers have focused on ways in which the brains of individuals with fragile X differ from the brains of individuals who don’t have fragile X. As noted in the discussion of facial features, individuals with fragile X syndrome, often have enlarged head size.
