In April 2022, ‘mental retardation’ was officially removed from the expanded name of FMR1 (more formally known as FRAXA), which is the gene implicated in the development of Fragile X Syndrome (FXS) and Fragile X Premutation Associated Conditions (FXPAC).
This removal occurred after advocacy from International Fragile X societies which emphasised that ‘mental retardation’ was a pejorative and misleading label conferring stigmatisation towards people with FXS or FXPAC. The HUGO Gene Nomenclature Committee accepted and published the following more inclusive names:
FMR1: Fragile messenger ribonucleoprotein 1
FRAXA: Fragile x site, folic acid type, rare, fra (X) (Q7.3) A
The FMR1 gene provides the body with instructions to produce FMRP, which is an essential protein for cells in the brain to function properly and communicate with each other. Absent or altered levels of FMRP due to a mutation in FMR1 is what underlies FXS and FXPAC, respectively. After sustained efforts from the authors of the original Cells article*, ‘mental retardation’ has also been omitted from the expanded name of FMRP, which is renamed as follows:
Recommended name: Fragile x messenger ribonucleoprotein 1
Alternative name: Fragile x messenger ribonucleoprotein
Short (abbreviation): FMRP
This new terminology will be published on a global protein database, UniProt, by July 2022. The collaboration between local and international Fragile X societies has successfully mobilised the adoption of informative and respectful terminology surrounding Fragile X conditions, and it is hoped that all future research will utilise and promote the renamed forms of FMRP, FMR1, and FRAXA.
*To read the full Cells article advocating for changes in terminology relating to Fragile X conditions, please visit the following link:
Emma Mather-Pike
Research Information Manager
Fragile X Society
4 May 2022