health

Fragile X syndrome is a genetic disorder caused by a mutation in the
FMR1 gene on the X chromosome. This gene makes a protein called fragile
X mental retardation 1 protein, whose function is not fully understood
but is thought to be related to the development of synapses,
which are specialized junctions between nerve cells. The mutation in the
gene blocks production of the needed protein, leading to mental retardation
and other developmental problems in affected children. The disorder
is called fragile X because the mutated gene causes part of the
chromosome to look unusually slender or fragile under a microscope.