Skip to main content
Fig. 1 | Clinical Epigenetics

Fig. 1

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

Fig. 1

Pedigrees and schematic of PADI6 and NLRP2 proteins. a three generation pedigree of family 1 showing a BWS-MLID child and multiple miscarriages; b scheme of PADI6 protein: variants associated with BWS-MLID are indicated by hexagons. Same color hexagons point to compound heterozygous women. All the PADI6 variants in BWS-MLID families cluster in the PAD domain of the protein. c Pedigree of family 2; d Diagrammatic structure of the human NLRP2 protein showing Pyrin, NACHT, and leucine-rich repeat domains. Reported variants are associated with BWS-MLID progeny. Grey triangles indicate miscarriages with unknown phenotypes. The dot within the circle indicates a woman carrier of SCMC variants. Genotype is reported for each studied individual; variants described in this study are in red characters. Each hexagon represents a family. #Variants associated with recurrence of BWS children in the family

Back to article page

Clinical Epigenetics

ISSN: 1868-7083

Contact us