Fig 1.
Graphical view of the MECP2 duplications/triplication.
Graphical view of the MECP2 duplications/triplication was created with custom tracks in the UCSC genome browser (GRCh37/hg19), (Patient 1 was identified with a triplication). The involved regions are shown in blue and MECP2 is marked by a red circle.
Table 1.
MECP2 duplication syndrome: clinical features and genetic details.
Fig 2.
Oxidative stress marker plasma levels in MDS and RTT.
Levels of NPBI, plasma free F2-IsoPs, F4-NeuroPs, and F2-dihomo-IsoPs in MDS are compared with those of RTT and healthy control subjects. All the statistical significant differences were reported. Legend: ANOVA, analysis of variance; F2-dihomo-isoPs, F2-dihomo-isoprostanes; F2-IsoPs, F2-isoprostanes; F4-NeuroPs, F4-neuroprostanes; IE-NPBI, intraerythrocyte non protein bound iron; MDS, MECP2 Duplication Syndrome; p-NPBI, plasma non protein bound; RTT, Rett syndrome.
Fig 3.
Relationship between plasma F2-IsoPs and Xq28 size (univariate regression analysis).
A positive linear relationship of plasma F2-IsoPs vs. Xq28 duplication/triplication size is showed. The strength of the relationship is indicated by the correlation coefficient (r = 0.9181, P = 0.0098). The linear regression equation was reported.
Table 2.
Routine chemistry biomarkers in patients with MECP2 duplication syndrome, Rett syndrome, and control subjects.
Table 3.
Commonalities and differences between MECP2 duplication syndrome and Rett syndrome.