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We also observed that 15q duplication subjects have mild facial anomalies.
We must also note that two out of four paternal duplication subjects examined also had autism (Table 1).
An advantage of this method is that parental DNA is not required, so it can be run on all 15q duplication subjects, even if they were adopted.
DOI: http://dx.doi.org/10.7554/eLife.10782.008 10.7554/eLiFigure82.009 Figure 3 figure supplement 2. Polyribosome fractionation traces of control and duplication subjects.
A limitation in this study is the lack of sufficient power for meaningful statistical comparisons between maternal and paternal duplication subjects due to a small number of paternal int dup(15) subjects.
Here we have shown for the first time that maternally derived or inherited duplications of the region between BP2 and BP3 are sufficient to produce a phenotype on the autism spectrum in all nine maternal duplication subjects tested.
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Because of its mosaic nature, duplication subject 3 should be indicated on Figure 2. We have labeled the mosaic patient on the figures.
Because of its mosaic nature, duplication subject 3 should be indicated on Figure 2. The relationship of high and low NUDT21 expression in GBM tumors has already been shown to result in shifts in abundance of long and short MECP2 transcripts presumably as a result of preferential PA site usage (see Figure 4, Masamha et al., 2014).
We have assembled the largest single cohort of interstitial duplication 15q subjects (14 total) for a detailed phenotype/genotype analysis of the autism component of the syndrome and to define some common features of int dup(15) syndrome.
For the studies of Kobashi G, et al [ 16] and Ohta K, et al [ 20] a unified data-set of tabular data obtained from the authors was used to avoid duplication of subjects involved in the two studies.
CYP2D6 genotyping found CYP2D6 gene duplication in subject 1 (patient), consistent with an ultrarapid metabolizer phenotype, while variant alleles identified in subject 2 (mother) predicted a rapid metabolizer phenotype (Table 2).
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