Fragile X syndrome and selective mutism

Randi J Hagerman, J. Hills, S. Scharfenaker, H. Lewis

Research output: Contribution to journalArticlepeer-review

60 Scopus citations


This is the first report that details an association between fragile X syndrome (FXS) and selective mutism (SM). This 12-year-old girl with heterozygous full mutation at FMR1 has a long history of social anxiety and shyness in addition to SM. Her sister also has the full mutation and a history of SM that resolved in adolescence. A beneficial response to fluoxetine and psychotherapy is described. The FMR1 mutation appears to be the first gene mutation associated with SM and further studies are recommended to assess what percentage of patients with SM have the FMR1 mutation.

Original languageEnglish (US)
Pages (from-to)313-317
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - Apr 2 1999
Externally publishedYes


  • FMR1 mutation
  • Fragile X syndrome
  • Selective mutism

ASJC Scopus subject areas

  • Genetics(clinical)


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