MECP2 duplication syndrome in both genders.

Abstract

BACKGROUND:

Duplications involving the methyl-CpG-binding protein 2 gene (MECP2) locus at Xq28 have been frequently identified in male patients who exhibit a phenotype unique from that of Rett syndrome, which is mainly characterized by severe mental retardation, recurrent infections, and epilepsy. This combination of features is recognized as MECP2 duplication syndrome.

METHODS:

Genomic copy number was investigated for patients with unexplained mental retardation, and phenotypic features of the patients having interstitial duplications including MECP2 were analyzed.

RESULTS:

Three male and one female patients with MECP2 duplication were identified. The phenotypic features of all the four patients were compatible with MECP2 duplication syndrome. The X-chromosome inactivation (XCI) pattern was analyzed in the female patient, identifying a skewed XCI that activated the X-chromosome containing the MECP2 duplication. Her mother possessed the same MECP2 duplication and a random XCI pattern but exhibited no phenotypic features, indicating a nonsymptomatic carrier. The brain magnetic resonance imaging revealed periventricular cystic lesions in all four patients, including the female patient.

CONCLUSION:

This study suggested clinical implications of the MECP2 duplication syndrome not only in the male but also in female patients with unexplained mental retardation.

• Authors: Shino Shimada, Nobuhiko Okamoto, Masahiro Ito, Yasuhiro Arai, Ken Momosaki, Masami Togawa, Yoshihiro Maegaki, Midori Sugawara, Keiko Shimojima, Makiko Osawa, Toshiyuki Yamamoto
• Journal: Brain & development (Brain Dev) Vol. 35 Issue 5 Pg. 411-9 (May 2013) ISSN: 1872-7131 [Electronic] Netherlands
• PMID: 22877836 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Crown Copyright © 2012. Published by Elsevier B.V. All rights reserved.

Chemical References

• Methyl-CpG-Binding Protein 2

Topics

• Adolescent
• Brain (pathology)
• Child, Preschool
• Chromosome Mapping
• Female
• Gene Duplication (genetics)
• Humans
• Intellectual Disability (etiology, genetics)
• Magnetic Resonance Imaging
• Male
• Mental Retardation, X-Linked (diagnosis, genetics)
• Methyl-CpG-Binding Protein 2 (genetics)
• Phenotype
• X Chromosome Inactivation (genetics)
• Young Adult