Fragile X International (FraXI) Successfully Advocates for the Eradication of “Retardation” Language Used in Describing Fragile X Syndrome and Related Conditions.
Discovered in 1991, the gene responsible for Fragile X was named Fragile X Mental Retardation-1 (FMR1). In 2022, thanks to the efforts of the European Fragile X Network this FMR1 gene has been renamed. FraXI (formerly known as the European Fragile X Network) is delighted to announce that, following its representations, the HUGO Gene Nomenclature Committee (HGNC) has changed the meanings of the acronyms FMR1 and FMRP.
Fragile x syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Mutations in the gene known as FMR1 are the cause of the syndrome. The FMR1 gene provides instructions for the making of the protein FMRP. In fragile x syndrome the FMR1 gene is turned off and this prevents the production of FMRP which is crucial to cognitive development.
- FMR1 formerly stood for “Fragile X Mental Retardation 1” and will now represent “Fragile X Messenger Ribonucleoprotein 1”
- FMRP formerly stood for “Fragile X Mental Retardation Protein” and will now represent “Fragile X Messenger Ribonucleoprotein”
There were also risks of misleading treatments being proscribed because isolating the description of the syndrome to the brain could reduce understanding as FMRP is actually present all over the body. Finally, it could reduce Fragile X to a single characteristic ignoring the other multiple challenges and strengths associated with the syndrome and its associated conditions.
We very much hope that the updating of the language used around fragile x syndrome and Fragile X Premutation Associated Conditions (FXPAC) can have a major influence on how it is perceived and understood around the world.