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Fig. 3 | Molecular Cytogenetics

Fig. 3

From: Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki–Lupski syndrome diagnosis

Fig. 3

RT-qPCR expression values of genes within and proximal to 17p11.2 deletion in SMS449 and SMS448. (a) RAI1 gene expression values are significantly reduced in SMS and significantly elevated in PTLS. Both the mother (SMS449) and the proband (SMS448) have significantly elevated RAI1 mRNA levels relative to clinically normal controls, while SMS448 also has significantly elevated levels relative to SMS449. (b) PEMT in both SMS449 and SMS448 have significantly reduced mRNA levels, similar to other individuals with SMS deletions. PEMT levels in individuals with PTLS are significantly elevated (c) FLCN levels are not compromised in either SMS449 and SMS448 despite only having one copy. Results are similar to other SMS deletions. Individuals with PTLS have significantly elevated levels. Data are plotted as means +/-SEM. *p < 0.05 (relative to control) † p < 0.05 (relative to SMS), # p < 0.05 (relative to PTLS), ^p < 0.05 (relative to SMS449)

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Molecular Cytogenetics

ISSN: 1755-8166