Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny

Table 1 Summary of the hypomethylated and hypermethylated DMRs in the BWS1 and BWS2 probands

	KCNQ1OT1:TSS-DMR	PLAGL1:alt-TSS-DMR	PEG3:TSS-DMR	GNAS-NESP:TSS-DMR	GNAS locus	PPIEL:Ex1-DMR	DIRAS3 locus	ERLIN2:Int6-DMR	ZDBF2/GPR1:IG-DMR	WDR27:Int13-DMR	FANCC:Int1-DMR	INPP5F:Int2-DMR	ZNF597:TSS-DMR	ZNF331 locus	WRB:alt-TSS-DMR	SNU13:alt-TSS-DMR
Parental origin	M	M	M	P	M	M	M	M	P	M	M	M	P	M	M	M
BWS 1	↓	–	–	–	–	↓	↓	–	↑	↓	↓	↓	↑	↓	↓	↓
	− 40%					− 30%	− 28%		17%	− 41%	− 36%	− 22%	28%	− 30%	− 34%	− 29%
BWS 2	↓	↓	↓	↑	↓	n.t	–	↓	n.t	–	↓	n.t	n.t	n.t	–	–
	− 40%	− 40%	− 40%	25%	− 25%			− 15%			− 38%

Each locus shows one DMR, apart (a) GNAS, including in the fourth column the paternal DMR and in the fifth one, the three maternal DMRs, and (b) ZNF331 and DIRAS3 including 2 DMRs. M: maternal origin of methylation, P: paternal origin of methylation, ↓: hypomethylation; ↑: hypermethylation: the percentage of hypo- or hyper-methylation at each locus compared to the relative median values of controls is indicated below the arrow, –: expected methylation pattern; nt: not tested. Cut-offs referred to each technique MS-MLPA, SNuPE and methylation array Bead Chip array 450 K are reported in Additional file 1

ISSN: 1868-7083