From the Departments of Pediatrics and Psychiatry, Vanderbilt University, Nashville, Tennessee (S.U.P., R.J.H., Z.W.); Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, Tennessee (S.U.P., R.J.H., A.K.W., Z.W., A.V.); Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas (C.C., J.R.L.); Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas (M.B.R.)
The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism
Article first published online: 20 NOV 2012
© 2012 International Society for Autism Research, Wiley Periodicals, Inc.
Volume 6, Issue 1, pages 42–50, February 2013
How to Cite
Peters, S. U., Hundley, R. J., Wilson, A. K., Warren, Z., Vehorn, A., Carvalho, C. M.B., Lupski, J. R. and Ramocki, M. B. (2013), The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism. Autism Res, 6: 42–50. doi: 10.1002/aur.1262
- Issue published online: 20 FEB 2013
- Article first published online: 20 NOV 2012
- Manuscript Accepted: 16 OCT 2012
- Manuscript Received: 26 APR 2012
- Vanderbilt Kennedy Center Hobbs Discovery Grant. Grant Number: 5P30HD015052-30
- NINDS grant. Grant Number: 5K08NS062711
- social affect;
Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data suggest that overexpression of MECP2 may be related to ASD. To better characterize the relevance of MECP2 overexpression to ASD-related behaviors, we compared the core symptoms of ASD in MECP2 duplication syndrome to nonverbal mental age-matched boys with idiopathic ASD. Within the MECP2 duplication group, we further delineated aspects of the behavioral phenotype and also examined how duplication size and gene content corresponded to clinical severity. We compared ten males with MECP2 duplication syndrome (ages 3–10) with a chronological and mental age-matched sample of nine nonverbal males with idiopathic ASD. Our results indicate that boys with MECP2 duplication syndrome share the core behavioral features of ASD (e.g. social affect, restricted/repetitive behaviors). Direct comparisons of ASD profiles revealed that a majority of boys with MECP2 duplication syndrome are similar to idiopathic ASD; they have impairments in social affect (albeit to a lesser degree than idiopathic ASD) and similar severity in restricted/repetitive behaviors. Nonverbal mental age did not correlate with severity of social impairment or repetitive behaviors. Within the MECP2 duplication group, breakpoint size does not predict differences in clinical severity. In addition to social withdrawal and stereotyped behaviors, we also found that hyposensitivity to pain/temperature are part of the behavioral phenotype of MECP2 duplication syndrome. Our results illustrate that overexpression/increased dosage of MECP2 is related to core features of ASD. Autism Res 2012, ●●: ●●–●●. © 2012 International Society for Autism Research, Wiley Periodicals, Inc.