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Fig. 3 | Clinical Epigenetics

Fig. 3

From: Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases

Fig. 3

Graphs showing the methylation ratio (mean blood/saliva/urine replicates ± SD) at each investigated CpG for two representative spor-PHP1B patients with partial (PHP2) and severe (PHP8) loss of imprinting (LOI) at GNAS DMRs compared to values obtained in healthy controls (negative ctrls) and the patient with the GNAS locus deletion (positive ctrl). All methylation ratios observed in spor-PHP1B patients were significantly different from those in wild type (P < 0.001). Methylation ratios determined in spor-PHP1B patients could be not significantly different (no symbol above the column) or significantly different (*P < 0.05; **P < 0.01; ***P < 0.001) from those due to ablation of the maternal allele

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Clinical Epigenetics

ISSN: 1868-7083

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