Clinical Rheumatology

, Volume 31, Issue 11, pp 1611–1615 | Cite as

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia

  • Loreto MartorellEmail author
  • Mireia Tondo
  • Ferrán Garcia-Fructuoso
  • Montserrat Naudo
  • Cayetano Alegre
  • Josep Gamez
  • Jordi Genovés
  • Pilar Poo
Brief Report


Fragile X mental retardation 1 (FMR1) premutation carriers, who are at risk of having children with fragile X Syndrome, were initially considered as clinically unaffected. However, recent clinical and molecular studies have shifted this point of view. The incidence of premutation in the general population is substantial. Apart from the well-documented fragile X-associated tremor–ataxia and fragile X premature ovarian insufficiency, there is a broad constellation of symptoms including depression, anxiety, muscle pain, autoimmune and thyroid disease, chronic fatigue, and fibromyalgia that has been described, particularly in females with the premutation (55–200 repeats). Fibromyalgia (FM) is the most common cause of widespread pain and comprises a heterogeneous group of patients, affecting 2–3 % of the general population. We analyzed the FMR1 gene in a cohort of females diagnosed with fibromyalgia in order to assess the incidence of premutated alleles. CGG repeat size was determined in 353 females suffering from FM and results were compared with a control group. Four premutated carriers in the FM group were detected. The observed incidence is higher than that described for a normal female population (1/88 vs 1/250). The early detection of premutation carriers for the FMR1 gene among individuals diagnosed with fibromyalgia is important and would be helpful in correct genetic counseling of patients and their families, who may be at risk of having children with fragile X syndrome, the most common known cause of inherited intellectual disability and autism. Our data should be cautiously interpreted based on just this study; nevertheless, screening for the FMR1 gene in FM patients at least with presentations suggestive of FMR1 gene-related disease seems recommendable.


Autoimmune disease CGG repeat Fibromyalgia, chronic pain FMR1 gene Genetic counseling Premutation 



We are indebted to all the patients who participated in our research for making this study possible. Thank to Dr. Sylvie Guiroux, form the Center de Reserche en génétiquehumanine et moléculaire, CHUQ, Québec, Canada, for kindly supplying us the StB12.3 probe. We also want to thank Katherine Andrews for assisting in language support.




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Copyright information

© Clinical Rheumatology 2012

Authors and Affiliations

  • Loreto Martorell
    • 1
    Email author
  • Mireia Tondo
    • 1
  • Ferrán Garcia-Fructuoso
    • 2
  • Montserrat Naudo
    • 1
  • Cayetano Alegre
    • 3
  • Josep Gamez
    • 4
  • Jordi Genovés
    • 1
  • Pilar Poo
    • 5
  1. 1.Molecular Genetics SectionHospital Sant Joan de DeuBarcelonaSpain
  2. 2.Rheumatology DepartmentCIMA ClinicBarcelonaSpain
  3. 3.Rehumatology DepartmentHospital de la Vall d’Hebron and Institut Universitari DexeusBarcelonaSpain
  4. 4.Neurology DepartmentHospital de la Vall d’HebronBarcelonaSpain
  5. 5.Neurology DepartmentHospital Sant Joan de DeuBarcelonaSpain

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