Additional file 1 of Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

Additional file 1. Table S1 Studies reporting on screening for MLID in ImpDis cohorts. Table S2 MS-MLPA results in the study population. DNA methylation alterations of 13 imprinted DMRs in 25 BWS/MLID and eleven SRS/MLID patients are shown. Oocyte-derived gDMRs are marked in red, sperm-derived gDMRs in blue. Table S3 ImprintSeq results. Mean methylation levels (MMLs) per locus and patient. The extent of methylation is shown by a colour gradient (red = high MML; green = low MML). The mean MML of the BWS/MLID and SRS/MLID group and its standard deviation from the control’s MML as well as the frequency of LOMs/GOMs per iDMR are listed below. Table S4 Application of the molecular MLID criteria proposed by Ochoa et al. (9) in the 27 patients examined by ImprintSeq. Table S5 Physical positions (CGRCh37/hg19) of the iDMRs analysed by MS-MLPA and ImprintSeq. Table S6 Discrepancy findings between MS-MLPA and ImprintSeq. In five iDMRs, discrepant results were examined by pyrosequencing. Table S7 WES results in our cohort. Pathogenic variants detected in NLRP2, NLRP5, and PADI6 in the six families for which data from NGS approaches have been published previously (14-16). The yet unpublished variant in NLRP7 is marked in red. Table S8 Clinical scores of the BWS/MLID (a) and SRS/MLID (b) patients, leaned on the BWS spectrum (BWSp)-scoring system suggested by Brioude et al. (17) and the Netchine-Harbison clinical scoring system (NH-CSS)(18). The frequency of clinical features of MLID patients is compared with those of single-locus patients of previously published studies (36, 38). Table S9 Birth parameters of the BWS/MLID and SRS/MLID patients, compared with those of single-locus patients from previously published studies (36, 38). Table S10 Reproductive history of the MLID mothers. Table S11 Functional properties of iDMRs with currently unknown clinical relevance but often affected in BWS/MLID or SRS/MLID patients.