title: Live births in women with recurrent hydatidiform mole and two NLRP7 mutations.
abstract: Hydatidiform mole (HM) is an aberrant human pregnancy with abnormal embryonic development and excessive proliferation of the trophoblast. Recessive mutations in NLRP7 are responsible for recurrent HM (RHM). Women with recessive NLRP7 mutations fail to have normal pregnancies from spontaneous conceptions with the exception of three out of 131 reported patients. Because there is no treatment for RHM and maternal-effect genes are needed in the oocytes to sustain normal embryonic development until the activation of the embryonic genome, one patient with recessive NLRP7 mutations tried ovum donation and achieved a successful pregnancy. This study reports three additional live births from donated ova to two patients with recessive NLRP7 mutations. The occurrence of two live births from spontaneous conceptions to two other patients is also reported. The reproductive outcomes and mutations of all reported patients were reviewed and it was found that live births are associated with some missense mutations expected to have mild functional consequences on the protein. The data support a previous observation that ovum donation appears the best management option for these patients to achieve normal pregnancies and provide an explanation for the rare occurrence of live births from natural spontaneous conceptions in patients with two NLRP7 mutations.
authors.affiliation: Department of Human Genetics, McGill University Health Centre Research Institute, Glen Site, Montreal H4A 3J1, Canada; Department of Obstetrics and Gynecology, McGill University Health Centre Research Institute, Glen Site, Montreal H4A 3J1, Canada.
authors.forename: Elie
authors.initials: E
authors.lastname: Akoury
authors.affiliation: Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences in New Delhi (AIIMS), New Delhi, 110029, India.
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.affiliation: Department of Obstetrics and Gynecology, Post Graduate Institute of Medical Education and Research, PGIMER, Chandigarh 160012, India.
authors.forename: Rashmi
authors.initials: R
authors.lastname: Bagga
authors.affiliation: Department of Obstetrics and Gynecology, University of Vermont, Given 263, 89 Beaumont Ave., Burlington, VT 05405, USA.
authors.forename: Stephen
authors.initials: S
authors.lastname: Brown
authors.affiliation: Department of Human Genetics, McGill University Health Centre Research Institute, Glen Site, Montreal H4A 3J1, Canada; Department of Obstetrics and Gynecology, McGill University Health Centre Research Institute, Glen Site, Montreal H4A 3J1, Canada.
authors.forename: Christine
authors.initials: C
authors.lastname: Déry
authors.affiliation: Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences in New Delhi (AIIMS), New Delhi, 110029, India.
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.affiliation: Cytology and Gynecological Pathology, Post Graduate Institute of Medical Education and Research, PGIMER, Chandigarh 160012, India.
authors.forename: Radhika
authors.initials: R
authors.lastname: Srinivasan
authors.affiliation: Department of Human Genetics, McGill University Health Centre Research Institute, Glen Site, Montreal H4A 3J1, Canada; Department of Obstetrics and Gynecology, McGill University Health Centre Research Institute, Glen Site, Montreal H4A 3J1, Canada. Electronic address: rima.slim@muhc.mcgill.ca.
authors.forename: Rima
authors.initials: R
authors.lastname: Slim
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000328:Adult; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D006828:Hydatidiform Mole / Q000150:complications* / Q000235:genetics; D007247:Infertility, Female / Q000235:genetics* / Q000628:therapy; D050498:Live Birth; D009154:Mutation; D020125:Mutation, Missense; D018587:Oocyte Donation; D011247:Pregnancy; D011256:Pregnancy Outcome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C502448:NLRP7 protein, human
keywords: NLRP7; live birth; ovum donation; recurrent hydatidiform mole