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. 2012 Apr;2(3-5):128-136.
doi: 10.1159/000329580. Epub 2011 Jul 5.

MECP2 Duplication Syndrome

H Van Esch  1
Affiliations

MECP2 Duplication Syndrome

H Van Esch. Mol Syndromol. 2012 Apr.

Abstract

Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability, many new patients have been identified and reported, and the etiology in already published families solved. This has led to the establishment of a clinically recognizable disorder. Here, we review the clinical data of 129 reported and nonreported male patients with MECP2 duplication syndrome.

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Figures

Fig. 1
Fig. 1
Upper panel: male patient with MECP2 duplication at age 2 (left) and age 5 (right). Note the hypotonic face with tented upper lip, open mouth and excessive drooling as well as the deep-set eyes and narrow nose. Lower panel: 15-year-old boy who regressed after onset of severe therapy-resistant epilepsy. Note the coarse hypotonic face and malformed nose due to the frequent drop attacks and chronic nasogastric tube feeding.
See this image and copyright information in PMC

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