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Brain Dev. 2013 May;35(5):411-9. doi: 10.1016/j.braindev.2012.07.010. Epub 2012 Aug 9.

MECP2 duplication syndrome in both genders.

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  • 1Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.

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.

Crown Copyright © 2012. Published by Elsevier B.V. All rights reserved.

PMID:
22877836
[PubMed - indexed for MEDLINE]
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