Journal
CELLS
Volume 11, Issue 6, Pages -Publisher
MDPI
DOI: 10.3390/cells11061044
Keywords
fragile X syndrome (FXS); fragile X premutation associated conditions (FXPAC); FRAXA; FMRP; FMR1; FMR2; FXR1; FXR2
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This article discusses the stigmatization, inaccuracy, and breadth of fragile X syndrome associated with the use of the term "retardation" in gene and protein naming. It proposes the adoption of a more inclusive terminology and suggests approaching the HGNC for new naming guidelines.
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.
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