Fig. 1

Human GNAS cluster. a Schematic diagram of the human GNAS cluster with DMRs A/B, XL, GNAS-AS, and NESP and the upstream STX16 gene region. The arrows show initiation and direction of transcription for maternal (mat)- and paternal (pat)-derived transcripts. b Overview of the different GNAS methylation studies that were performed for 24 PHP patients in this study using the HM450k and Sequenom EpiYTPER and previously, by five different European centers using the specified techniques and loci. c Detailed schematic representation of the four GNAS DMRs investigated by the different European laboratories and the consortium. Nucleotide positions are indicated according to NCBI build 37/hg19