Cognitive and behavioral performance among FMR1 high-repeat allele carriers surveyed from special education classes.

Full Abstract

The fragile X syndrome is caused by an unstable CGG repeat sequence in the 5' untranslated region of the X-linked, FMR1 gene. When the number of repeats exceeds 200, the region is hypermethylated and the gene is silenced. The lack of the protein produced by the FMR1 gene, FMRP, causes the fragile X syndrome. Recent evidence suggests that FMR1 alleles with unmethylated long repeat tracks (40-200 repeats) may cause a specific somatic phenotype in women, premature ovarian failure, and may cause variation in the levels of FMR1 mRNA and FMRP. Because FMR1 is known to be involved in the regulation of subset of genes expressed in the brain, we investigated the variation in cognitive and/or behavioral performance among carriers of high repeat alleles. Specifically, we administered cognitive, behavioral, and adaptive performance tests to children identified with high repeat alleles who attended special education classes in Atlanta, Georgia public schools and to those with < 40 repeats drawn from the same population. Overall, we found no significant effect of repeat size and the psychometric measures in our test battery after adjustment for multiple comparisons. All scales were found to be within 1 SD standard deviation of the mean. We did find an intriguing, albeit marginally statistically significant, association in the cognitive profile among males and not females, consistent with an X-linked effect. After adjusting for the overall cognitive abilities score, Verbal Ability scores decreased and Nonverbal Reasoning scores increased with repeat number to a greater extent in males than females. Spatial Ability scores were not associated with repeat number.Copyright 2002 Wiley-Liss, Inc.

Learn Faster Today Improve your study skills

Author information

Author/s: Sherman, S L (SL); Marsteller, F (F); Abramowitz, A J (AJ); Scott, E (E); Leslie, M (M); Bregman, J (J);

Affiliation: Department of Genetics, Emory University, Atlanta, Georgia 30322, USA. ssherman(-atsign-)genetics.emory.edu

Grants: R01 29909 (Agency:PHS HHS)

Journal and publication information

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal: American journal of medical genetics (Am J Med Genet), published in United States. (Language: eng)

Reference: 2002-May; vol 114 (issue 4) : pp 458-65

Dates: Created 2002/05/23; Completed 2002/09/27; Revised 2007/11/14;

PMID: 11992571, status: MEDLINE (last retrieval date: 12/26/2008)

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

External Links for this article (including full text providers, if available):

Click Electronic Full-text Provider Links to see options for finding the electronic full text links to this article. Note there may be a subscription or fee required for access to the full text. See our FAQ for information on finding FREE full text articles.

This article may also be located in paper journal collections available in many libraries. Use the Journal and Publication Information above to find the full article.

MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Adaptation, Psychological
Child
Cognition
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome - genetics
Humans

Associated Chemicals: FMR1 protein, human (0) ; Nerve Tissue Proteins (0) ; RNA-Binding Proteins (0) ; Fragile X Mental Retardation Protein (139135-51-6)

These are the highest related articles currently in the database:

See 100+ related articles.