title: The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole.
abstract: OBJECTIVE
  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 recurrent hydatidiform mole cases recorded since 1999 in order to identify links between clinic, histology and genetics.
  
  
  METHODS
  We present here the gestational history and the spectrum of NLRP7 mutations in our French series.
  
  
  METHODS
  We performed a retrospective study from clinical forms received for genetic diagnosis. Cases declaration was based on a voluntary initiative coming from French practitioners, subjected to patients' agreement.
  
  
  RESULTS
  Among 12 recurrent hydatidiform moles investigated, we identified 3 cases of confirmed homozygous NLRP7 mutation and 3 cases of heterozygous NLRP7 mutation. One patient bore a novel mutation p.Leu880Ser in a homozygous state.
  
  
  CONCLUSIONS
  We here identified a new homozygous NLRP7 mutation. Unfortunately, no modern therapeutic option has proven effective to obtain evolutive pregnancies. Then, fundamental and clinical researches seem to be necessary. Moreover, collecting RHM cases is essential.
authors: Université Lyon 1, C.H.U. Lyon Sud, Centre Français de Référence des Maladies Trophoblastiques, Service de Chirurgie Gynécologique et Oncologique-Obstétrique, 69495 Pierre-Bénite cedex, France.
authors: Joël
authors: J
authors: Muhlstein
authors: François
authors: F
authors: Golfier
authors: Cécile
authors: C
authors: Rittore
authors: Touria
authors: T
authors: Hajri
authors: Laurent
authors: L
authors: Philibert
authors: Fabienne
authors: F
authors: Abel
authors: Claire
authors: C
authors: Beneteau
authors: Isabelle
authors: I
authors: Touitou
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D005260:Female; D005602:France; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006828:Hydatidiform Mole / Q000208:ethnology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009364:Neoplasm Recurrence, Local / Q000208:ethnology / Q000235:genetics*; D011247:Pregnancy; D011252:Pregnancy Complications, Neoplastic / Q000235:genetics; D012189:Retrospective Studies; D014594:Uterine Neoplasms / Q000208:ethnology / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C502448:NLRP7 protein, human