Reduced telomere length in individuals with FMR1 premutations and full mutations

Edmund C. Jenkins, Flora Tassone, Lingling Ye, André T. Hoogeveen, W. Ted Brown, Randi J Hagerman, Paul J Hagerman

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


We reported previously that 10 older men (66.4±4.6 years) with premutation alleles (55-200 CGG repeats) of the FMR1 gene, with or without FXTAS, had decreased telomere length when compared to sex- and age-matched controls. Extending our use of light intensity measurements from a telomere probe hybridized to interphase preparations, we have now found shortened telomeres in 9 younger male premutation carriers (31.7±17.6 years). We have also shown decreased telomere length in T lymphocytes from 6 male individuals (12.0±1.8 years) with full mutation FMR1 alleles (>200 CGG repeats). These findings support our hypothesis that reduced telomere length is a component of the sub-cellular pathology of FMR1-associated disorders. The experimental approach involved pair-wise comparisons of light intensity values of 20 cells from an individual with either premutation or full mutation CGG-repeat expansions relative to an equivalent number of cells from a sex- and age-matched control. In addition, we demonstrated reduced telomere size in T-lymphocyte cultures from eight individuals with the FMR1 premutation using six different measures. Four relied on detection of light intensity differences, and two involved measuring the whole chromosome, including the telomere, in microns. This new approach confirmed our findings with light intensity measurements and demonstrated the feasibility of direct linear measurements for detecting reductions in telomere size. We have thus confirmed our hypothesis that reduced telomere length is associated with both premutation and full mutation-FMR1 alleles and have demonstrated that direct measurements of telomere length can reliably detect such reductions.

Original languageEnglish (US)
Pages (from-to)1060-1065
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number5
StatePublished - May 2012


  • FISH
  • FMR1
  • Fragile X Syndrome
  • Full Mutation
  • PNA telomere probe
  • Premutation
  • Shorter Telomeres

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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