Germline variants in genes of the Subcortical Maternal Complex and Multilocus Imprinting Disturbance (PADI6 and NLRP2) are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.

This dataset contains the data for the paper Tannorella et al., "Germline variants in genes of the Subcortical Maternal Complex and Multilocus Imprinting Disturbance are associated with Miscarriage/infertility or Beckwith-Wiedemann progeny". In this paper, two unrelated mothers of BWS patients carrying hypo-methylation in the KCNQ1OT1:TSS DMR (11p15.5) and showing an MLID (Multilocus Imprinting Disturbance) condition, were investigated by exome sequencing: one experiencing 8 miscarriages with a compound heterozygous PADI6 variant (mother of BWS Case 1) and another with a history of conception difficulties with a novel homozygous nonsense NLRP2 variant (mother of BWS Case 2).