Fear-specific amygdala function in children and adolescents on the fragile x spectrum: A dosage response of the FMR1 gene

So Yeon Kim, Jessica Burris, Frederick Bassal, Kami Koldewyn, Sumantra Chattarji, Flora Tassone, David R Hessl, Susan M. Rivera

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Mutations of the fragile X mental retardation 1 (FMR1) gene are the genetic cause of fragile X syndrome (FXS). The presence of significant socioemotional problems has been well documented in FXS although the brain basis of those deficits remains unspecified. Here, we investigated amygdala dysfunction and its relation to socioemotional deficits and FMR1 gene expression in children and adolescents on the FX spectrum (i.e., individuals whose trinucleotide CGG repeat expansion from 55 to over 200 places them somewhere within the fragile X diagnostic range from premutation to full mutation). Participants performed an fMRI task in which they viewed fearful, happy, and scrambled faces. Neuroimaging results demonstrated that FX participants revealed significantly attenuated amygdala activation in Fearful > Scrambled and Fearful > Happy contrasts compared with their neurotypical counterparts, while showing no differences in amygdala volume. Furthermore, we found significant relationships between FMR1 gene expression, anxiety/social dysfunction scores, and reduced amygdala activation in the FX group. In conclusion, we report novel evidence regarding a dosage response of the FMR1 gene on fear-specific functions of the amygdala, which is associated with socioemotional deficits in FXS.

Original languageEnglish (US)
Pages (from-to)600-613
Number of pages14
JournalCerebral Cortex
Issue number3
StatePublished - Mar 2014


  • amygdala
  • emotion
  • FMR1 gene
  • fragile X syndrome
  • functional brain imaging

ASJC Scopus subject areas

  • Cognitive Neuroscience
  • Cellular and Molecular Neuroscience


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