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. 2022 Mar 19;11(6):1044.
doi: 10.3390/cells11061044.

The Use of "Retardation" in FRAXA, FMRP, FMR1 and Other Designations

Jonathan Herring  1 , Kirsten Johnson  2   3 , Jörg Richstein  3   4
Affiliations

The Use of "Retardation" in FRAXA, FMRP, FMR1 and Other Designations

Jonathan Herring et al. Cells. .

Abstract

The European Fragile X Network met in Wroclaw, Poland, November 2021, and agreed to work towards the eradication of the word "retardation" in regard to the naming of the fragile X gene (FRAXA) and protein (FMRP). There are further genes which have "retardation" or abbreviations for "retardation" in their names or full designations, including FMR1, FMR2, FXR1, FXR2, NUFIP1, AFF1, CYFIP1, etc. "Retardation" was commonly used as a term in years past, but now any reference, even in an abbreviation, is offensive. This article discusses the stigmatisation associated with "retardation", which leads to discrimination; the inaccuracy of using "retardation" in these designations; and the breadth of fragile X syndrome being beyond that of neurodiversity. A more inclusive terminology is called for, one which ceases to use any reference to "retardation". Precedents for offensive gene names being altered is set out. The proposal is to approach the HGNC (HUGO [Human Genome Organisation] Gene Nomenclature Committee) for new terminology to be enacted. Ideas from other researchers in the field are welcomed.

Keywords: FMR1; FMR2; FMRP; FRAXA; FXR1; FXR2; fragile X premutation associated conditions (FXPAC); fragile X syndrome (FXS).

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Conflict of interest statement

The authors declare no monetary conflict of interest. However, all of the authors are affiliated with charities that support those with FXS and FXPAC.

Comment in

References

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