FMR1 Renamed to Fragile X Messenger Ribonucleoprotein 1

FMR1 - fragile X messenger ribonucleoprotein 1

Thanks to the European Fragile X Network (EFXN), the words “mental retardation” will no longer be used to describe the FMR1 gene which causes Fragile X! The efforts of the EFXN, which consists of seventeen national Fragile X associations, have led to the renaming of the FMR1 gene to “Fragile X messenger ribonucleoprotein 1” and the protein produced by this gene to "Fragile X Messenger Ribonucleoprotein", or FMRP.

Families around the globe are celebrating the news as a significant step forward for acceptance and the removal of a term that evokes many negative feelings. FRAXA president and co-founder Katie Clapp expressed, “As the mother of a son and daughter who both have the full mutation for Fragile X but who are affected very differently, I am grateful to the EFXN for their work to create a positive, more accurate definition of the Fragile X gene”.

Discovered in 1991, the gene responsible for Fragile X was named Fragile X Mental Retardation-1. The challenge with this description, in addition to the stigma around the language, is that many individuals with full mutation Fragile X do not have cognitive impairment. In fact, most females have normal intelligence.

Understanding the negative association and stigma that goes with those words, the EFXN began work to update the Fragile X terminology during their 2021 meeting in Poland.

Elspeth Bruford, PhD, Group Coordinator & PI with the HUGO Gene Nomenclature Committee (HGNC) shared “We have been truly delighted by the positive feedback this change has elicited.

Fragile X specialists shared their excitement regarding the name change, too. “All of us working in the Fragile X field are so glad to see this gene renamed so that we can get away from the negative connotations of “mental retardation” in the gene name and have a more appropriate gene name that is descriptive of its function.” Dr. Elizabeth Berry-Kravis

“The parents did a wonderful job in pushing for the elimination of “mental retardation” from the FMR1 name.” Dr. Randi Hagerman