Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region

摘要: Background: NLRP7 (NALP7) has recently been identified as the causative gene for familial recurrent hydatidiform mole (FRHM), a rare autosomal recessive condition in which affected women have molar pregnancies of diploid biparental origin. To date only small number families described. Our objectives were to investigate diversity mutations and their localisation one or both isoforms NLRP7, by screening large series with FRHM examine normal expression ovarian tissue. Methods: Fluorescent microsatellite genotyping tissue was used establish diagnosis FRHM. Twenty subsequently screened using DNA sequencing. Expression ovary examined immunohistochemical staining. Results: 16 different study, 13 novel. Missense found be present transcript variant 2 cluster leucine-rich region (LRR). A man two sisters homozygous p.R693P mutation had reproductive outcomes. In human ovary, is confined oocytes at all stages from primordial tertiary follicles. Conclusion: novel identified. We confirm that affect female but not male reproduction, provide evidence important isoform this condition. The clustering seen confirms LRR critical functioning NLRP7.