Fragile X syndrome

July 25, 2023

‘World Fragile X Awareness Day’ is observed on July 22^nd across the globe to spread education and awareness among the general public about the genetic disorder called ‘Fragile X Syndrome’.
Fragile X syndrome (FXS) is a genetic disorder that causes intellectual disability and autism.
First reported in 1943 by James Purdon Martin and Julia Bell in Britain, the condition was originally referred to Martin–Bell syndrome. It is also known as Marker X syndrome.
The syndrome is the leading inherited cause of autism in 4% of the population worldwide.
Boys often have a more serious form of it than girls.
FXS is caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1 (FMR1).
- FMR1 usually makes a protein called FMRP that is needed for brain development.
A mother who is a carrier of FXS has a 50% chance of passing the mutated gene to her children, who will either be carriers or have FXS.
- Men who are carriers do not pass the pre-mutation to their sons, but only daughters, who become carriers.
There is no cure for FXS.
However, treatment services can help people learn important skills.