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
Child Development Unit, Children's Hospital of Denver, CO 80218.
J Am Acad Child Adolesc Psychiatry. 1994 Nov-Dec;33(9):1316-21. doi: 10.1097/00004583-199411000-00014.
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.
