Neurobehavioral phenotype in carriers of the fragile X premutation

✍ Scribed by Johnston, Cindy ;Eliez, Stephan ;Dyer-Friedman, Jennifer ;Hessl, David ;Glaser, Bronwyn ;Blasey, Christine ;Taylor, Annette ;Reiss, Allan

• Publisher: John Wiley and Sons
• Year: 2001
• Tongue: English
• Weight: 91 KB
• Volume: 103
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1561

✦ Synopsis

There have been contradictory ®ndings in the fragile X (fraX) literature about possible neurocognitive and psychological symptoms due to the fraX premutation (pM). The purpose of the present study was to investigate the relationship between CGG repeat length and neurobehavioral functioning in carriers of the fraX pM. Eighty-®ve female carriers of the pM with allele sizes ranging from 59±166 were administered a comprehensive IQ test (WAIS-III) and completed a questionnaire designed to measure psychopathology (Symptom Checklist (SCL)-90-R).

No relationship between allele size and cognition was identi®ed. A signi®cant negative relationship between allele size and age was found, as well as a positive relationship between allele size and depression. Followup analyses separating small and large allele sizes (below and above 100 CGG repeats) indicated that individuals with larger allele sizes scored signi®cantly higher on the Interpersonal Sensitivity and Depression subscales of the SCL-90-R. Despite the limitation of few individuals with high CGG repeat lengths, our ®ndings suggest that females with larger premutated alleles ( 100 repeats) display some clinical manifestations of fraX syndrome.