Screening for the presence of FMR1 premutation alleles in women with fibromyalgia

Laia Rodriguez-Revenga, Irene Madrigal, Josep Blanch-Rubió, Dei M. Elurbe, Elisa Docampo, Antonio Collado, Javier Vidal, Jordi Carbonell, Xavier Estivill, Montserrat Mila

Research output: Contribution to journalArticle

13 Citations (Scopus)


Fibromyalgia is a chronic condition characterized by widespread pain, fatigue, non-restorative sleep and cognitive difficulties that affects 2-4% of the general population. Recently a possible relationship between the FMR1 premutation and fibromyalgia has been pointed out. In attempt to gather more data we screened for the FMR1 CGG expansion 700 DNA samples from unrelated fibromyalgia patients. This data might be useful for evaluating the incorporation of this test in rheumatologic procedures for women with fibromyalgia. The observed frequency of FMR1 premutation carriers (3 of 700, 0.4%) is not significantly different from the estimated rate in the general female population (1/250-1/400) (P=0.539, P=0.716). Clinical examination of the FMR1 premutation carriers identified revealed that all of them had important neurological symptoms with regard to muscular symptoms, neurocognitive alterations and neurovegetative impairments. With regard to other clinical aspects of the disease the cases apparently did not differ from the average fibromyalgia patients. On the basis of our results an FMR1 screening among fibromyalgia female patients would not be recommended. However it would be worthwhile to further evaluate the different clinical presentations that fibromyalgia patients might present based on their FMR1 premutation carrier status.

Original languageEnglish
Pages (from-to)305-308
Number of pages4
Issue number2
Publication statusPublished - 10 Jan 2013



  • FMR1 gene
  • Female premutation carriers
  • Fibromyalgia
  • Neurological impairment

ASJC Scopus subject areas

  • Genetics

Cite this

Rodriguez-Revenga, L., Madrigal, I., Blanch-Rubió, J., Elurbe, D. M., Docampo, E., Collado, A., Vidal, J., Carbonell, J., Estivill, X., & Mila, M. (2013). Screening for the presence of FMR1 premutation alleles in women with fibromyalgia. Gene, 512(2), 305-308.