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. 2021 May 28;11:11295. doi: 10.1038/s41598-021-90798-z

Figure 1.

Figure 1

MAND patient 2q23.1 deletions include MBD5 and exhibit reduced MBD5 expression indicating haploinsufficiency. (a) Schematic diagram of the chromosome 2q23.1 deletion region. The coding region of MBD5 is indicated by the red box; yellow region indicates non-coding exons. Chromosome 2q23.1 deletions present in the MAND patients in this study are summarized with bars. Additional details regarding MAND patients are provided in Supplementary Table 1. (b) qRT-PCR analysis showed ~ 50% reduction of MBD5 mRNA expression in primary fibroblasts derived the three MAND patients compared to the controls. Expression of MBD5 was calculated relative to that of the housekeeping gene, GAPDH. All expression values were calculated relative to control levels set at 1.0. Error bars represent the SEM. ****p < 0.0001, n = 3 independent biological replicates performed in triplicate, GraphPad Prism 8.4.2 (graphpad.com). (c) Overview of iPSC and neural progenitor cell (NPC) line derivations in this study. Skin fibroblasts from MAND patients (bar, 0.5 mm) were converted into iPSC by transfection with episomal plasmids encoding reprogramming factors (bar, 0.5 mm). NPC were derived from iPSC with neuronal induction medium (bar, 0.2 mm).