Fragile X syndrome in a normal IQ male with learning and emotional problems

S. A. Merenstein, V. Shyu, W. E. Sobesky, L. Staley, E. Berry-Kravis, D. L. Nelson, K. A. Lugenbeel, A. K. Taylor, B. F. Pennington, Randi J Hagerman

Research output: Contribution to journalArticle

29 Scopus citations

Abstract

The present case study features an adult male who was diagnosed with fragile X syndrome after the identification of this syndrome in his more affected brother. The patient presented with a Full Scale IQ within the broad range of normal and has been diagnosed with a schizotypal personality disorder. He shows significant deficits in the social and emotional aspects of daily life, but has striking cognitive strengths relating to reading and vocabulary as compared to most males affected with fragile X syndrome. DNA testing of blood leukocytes revealed that he has a fully expanded FMR1 CGG repeat mutation associated with almost complete lack of methylation. Protein studies demonstrate a limited production of FMRP, the protein produced by the FMR1 gene. It is believed that the near absence of methylation of the fully expanded mutation and the resultant expression of the FMR1 protein is responsible for the strong cognitive abilities of this fragile X patient.

Original languageEnglish (US)
Pages (from-to)1316-1321
Number of pages6
JournalJournal of the American Academy of Child and Adolescent Psychiatry
Volume33
Issue number9
StatePublished - 1994
Externally publishedYes

Keywords

  • FMR protein
  • FMR-1 gene
  • fragile X syndrome
  • high functioning
  • methylation

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Developmental and Educational Psychology

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    Merenstein, S. A., Shyu, V., Sobesky, W. E., Staley, L., Berry-Kravis, E., Nelson, D. L., Lugenbeel, K. A., Taylor, A. K., Pennington, B. F., & Hagerman, R. J. (1994). Fragile X syndrome in a normal IQ male with learning and emotional problems. Journal of the American Academy of Child and Adolescent Psychiatry, 33(9), 1316-1321.