Fig. 5
A recapitulation of the mutation screening in 113 patients and comprehensive characterization of their hydatidiform mole tissues. Among 113 patients, 55% (62 patients) have NLRP7 and 5% have KHDC3L pathogenic variants in recessive state; the remaining 40% (45) do not have mutations in either gene. In patients with NLRP7 and KHDC3L recessive mutations, all analyzed products of conception (60 and 6, respectively) were found diploid biparental. In patients without mutations in these two genes, the genotypes were highly heterogeneous and diploid biparental moles were found in only a minority of cases (8%). The sizes of the pies are proportional to the number of patients. HM stands for hydatidiform mole; CHM, complete HM; PHM, partial HM; RHM, recurrent hydatidiform mole; NM MC, non-molar miscarriages; POC, product of conception.
