Molecular-clinical correlations in males with an expanded FMR1 mutation

Scott A. Merenstein, William E. Sobesky, Annette K. Taylor, Jeannette E. Riddle, Hieu X. Tran, Randi J Hagerman

Research output: Contribution to journalArticlepeer-review

180 Scopus citations


Fragile X syndrome is caused by an expansion of a CGG repeat in the FMR1 gene. The CGG repeat number of the FMR1 mutation and the percentage of cells with methylation of the gene were studied in 218 male patients. Physical and cognitive measurements were also performed. Patients were divided into three groups; those with full mutation and complete methylation (n = 160), those with full mutation and partial methylation (n = 12), and those with a mosaic pattern (n = 46). Statistical comparisons were made between males with the fully methylated full mutation and those with a mosaic pattern. Males having full mutation with complete methylation had the lowest IQ scores and greatest physical involvement. These significant differences were seen only in ages after puberty. CGG repeat length did not correlate with IQ or the physical index score in any group. These findings suggest that a partial production of FMR1 protein may predict milder clinical involvement in some males with fragile X syndrome.

Original languageEnglish (US)
Pages (from-to)388-394
Number of pages7
JournalAmerican Journal of Medical Genetics
Issue number2
StatePublished - Aug 9 1996
Externally publishedYes


  • amplification size
  • FMR protein
  • FMR1 gene
  • fragile X syndrome
  • methylation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology


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