The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole

摘要: Abstract Objectives The NLRP7 gene (19q13.42) is associated with recurrent and/or familial hydatidiform moles. Several mutations, histopathological types and reproductive outcomes have been described. We studied our mole cases recorded since 1999 in order to identify links between clinic, histology genetics. Study present here the gestational history spectrum of mutations French series. Design performed a retrospective study from clinical forms received for genetic diagnosis. Cases declaration was based on voluntary initiative coming practitioners, subjected patients' agreement. Results Among 12 moles investigated, we identified 3 confirmed homozygous mutation heterozygous mutation. One patient bore novel p.Leu880Ser state. Conclusions new Unfortunately, no modern therapeutic option has proven effective obtain evolutive pregnancies. Then, fundamental researches seem be necessary. Moreover, collecting RHM essential.