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Fig. 4 | Clinical Epigenetics

Fig. 4

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

Fig. 4

Pie chart showing the prevalence of different sub-clusters of methylation defects detected in our cohort of PHP1B patients with broad GNAS imprinting defects. In particular, patients were firstly divided into two main groups, the severe and the partial methylation defect (58 and 42%, respectively), and then the partial group was further subdivided into partial LOM limited to the XL DMR (18%, 12 of 67 pts), partial LOM limited to the AS DMR (7%, 5 of 67 pts), partial LOM limited to AS and XL DMRs (7%, 5 of 67 pts), and partial LOI at all 4 DMRs (10%, 7 of 67 pts)

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Clinical Epigenetics

ISSN: 1868-7083

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