Lia Boyle is the Clinic Coordinator for Kennedy Krieger Institute's Fragile X Clinic and a Research Coordinator at Kennedy Krieger Institute's Center for Genetic Disorders of Cognition and Behavior.
The behavioral phenotype of FMR1 mutations†
Article first published online: 27 OCT 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Behavioral Phenotypes in Neurogenetic Syndromes
Volume 154C, Issue 4, pages 469–476, 15 November 2010
How to Cite
Boyle, L. and Kaufmann, W. E. (2010), The behavioral phenotype of FMR1 mutations. Am. J. Med. Genet., 154C: 469–476. doi: 10.1002/ajmg.c.30277
How to cite this article: Boyle L, Kaufmann WE. 2010. The behavioral phenotype of FMR1 mutations. Am J Med Genet Part C Semin Med Genet 154C:469–476.
- Issue published online: 27 OCT 2010
- Article first published online: 27 OCT 2010
- National Institutes of Health. Grant Numbers: HD33175, MH67092
- fragile X syndrome;
- fragile X premutation;
- intellectual disability;
The purpose of this article is to provide an overview of the behavioral phenotype of FMR1 mutations, including fragile X syndrome (FXS) in order to better understand the clinical involvement of individuals affected by mutations in this gene. FXS is associated with a wide range of intellectual and behavioral problems, some relatively mild and others quite severe. FXS is the most common cause of inherited intellectual disability and one of the most prevalent genetic causes of autism spectrum disorder. Learning difficulties, attentional problems, anxiety, aggressive behavior, stereotypies, and mood disorders are also frequent in FXS. Recent studies of children and adults have identified associations between FMR1 premutation and many of the same disorders. We examine the neurobehavioral phenotypes of FXS and FMR1 premutation as they manifest across the lifespan of the individual. © 2010 Wiley-Liss, Inc.