A 23-year-old man had epilepsy, mental retardation, and a stereotyped movement (figure 1 and video1), which was exacerbated by emotion. No abnormality was detected in the EEG during this movement. Array comparative genomic hybridization showed a Xq28 duplication: arr[GRCh37]Xq28(153032004_153406233)x2 (figure 2).
Video 1
Stereotyped upper limb movement of MECP2 duplication syndrome. This was like a choreiform movement, with intermittent, spontaneous writhing movement of both arms and hands that at times also involved the upper body without movement of lower extremities during this movement.Download Supplementary Video 1 via http://dx.doi.org/10.1212/012130_Video_1
MECP2, IRAK1, and L1CAM were included in the duplication with a size of approximately 0.4 Mb. Genomic positions are based on data from the human genome assembly GRCH37/hg19.
The methyl-CpG-binding protein 2 gene (MECP2) duplication syndrome is a rare genetic disease whose causative gene is the same as that for Rett syndrome. The characteristic symptom of both diseases is stereotyped movement. The movement in MECP2 duplication syndrome is writhing arms and hands,1 unlike Rett syndrome.2
Study Funding
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Footnotes
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