DNA methylation profiles of assisted reproductive technologies (ART)-conceived Silver-Russell syndrome (SRS) patients

The use of assisted reproductive technologies (ART) has become increasingly common due to late marriage and improvement of medical technology in developed countries, including Japan. However, the majority of studies published previously have suggested the correlation of an increased incidence of normally very rare imprinting disorders in the babies conceived using ART. These disorders include Beckwith-Wiedemann syndrome (BWS), Angelman Syndrome (AS), Prader-Willi syndrome (PWS) and Silver-Russell syndrome (SRS). However, it is unknown when is predisposed to these disorders and what of ART factor is caused the imprinting disorders. In this study, we performed reduced representation bisulfite sequencing (RRBS) to produce DNA methylomes from ART-conceived SRS (ART-SRS) patients, spontaneously-conceived SRS (Sp-SRS) patients and spontaneously conceived normal children (Control). We found that ART-SRS patients had incomplete and more widespread DNA methylation variation (DMVs) than Sp-SRS patients, and the frequencies of DMVs increased in the sperm-specific methylated regions and some phenotype-associated regions. The Data Access Committee of the National Bioscience Database Center (NBDC) approved that this personal genetic data were made published according to NBDC data sharing guidelines (http://humandbs.biosciencedbc.jp/).