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Article: NLRP7 in the spectrum of reproductive wastage: Rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage

TitleNLRP7 in the spectrum of reproductive wastage: Rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage
Authors
Issue Date2011
PublisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Citation
Journal Of Medical Genetics, 2011, v. 48 n. 8, p. 540-548 How to Cite?
AbstractBackground: NLRP7 mutations are responsible for recurrent molar pregnancies and associated reproductive wastage. To investigate the role of NLRP7 in sporadic moles and other forms of reproductive wastage, the authors sequenced this gene in a cohort of 135 patients with at least one hydatidiform mole or three spontaneous abortions; 115 of these were new patients. Methods/Results: All mutations were reviewed and their number, nature and locations correlated with the reproductive outcomes of the patients and histopathology of their products of conception. The presence of NLRP7 mutations was demonstrated in two patients with recurrent spontaneous abortions, and some rare non-synonymous variants (NSVs), present in the general population, were found to be associated with recurrent reproductive wastage. These rare NSVs were shown to be associated with lower secretion of interleukin 1β and tumour necrosis factor and therefore to have functional consequences similar to those seen in cells from patients with NLRP7 mutations. The authors also attempted to elucidate the cause of stillbirths observed in 13% of the patients with NLRP7 mutations by examining available placentas of the stillborn babies and live births from patients with mutations or rare NSVs. A number of severe to mild placental abnormalities were found, all of which are known risk factors for perinatal morbidity. Conclusions: The authors recommend close follow-up of patients with NLRP7 mutations and rare NSVs to prevent the death of the rare or reduced number of babies that reach term.
Persistent Identifierhttp://hdl.handle.net/10722/148644
ISSN
2015 Impact Factor: 5.65
2015 SCImago Journal Rankings: 3.820
ISI Accession Number ID
Funding AgencyGrant Number
FRSQ
McGill Centre for the Study of Reproduction
Reseau Quebecois en Reproduction
CIHRMOP 86546
French Ministry of Health
Funding Information:

RS is supported by a Chercheur Boursier Salary Award, Senior from the FRSQ. CM was supported by a trainee award from the McGill Centre for the Study of Reproduction. RDRB was supported by a CREATE Scholarship from the 'Reseau Quebecois en Reproduction'. This work is supported by the CIHR (grant number MOP 86546) and the French Ministry of Health to IT.

References

 

DC FieldValueLanguage
dc.contributor.authorMessaed, Cen_US
dc.contributor.authorChebaro, Wen_US
dc.contributor.authorDi Roberto, RBen_US
dc.contributor.authorRittore, Cen_US
dc.contributor.authorCheung, Aen_US
dc.contributor.authorArseneau, Jen_US
dc.contributor.authorSchneider, Aen_US
dc.contributor.authorChen, MFen_US
dc.contributor.authorBernishke, Ken_US
dc.contributor.authorSurti, Uen_US
dc.contributor.authorHoffner, Len_US
dc.contributor.authorSauthier, Pen_US
dc.contributor.authorBuckett, Wen_US
dc.contributor.authorQian, JHen_US
dc.contributor.authorLau, NMen_US
dc.contributor.authorBagga, Ren_US
dc.contributor.authorEngert, JCen_US
dc.contributor.authorCoullin, Pen_US
dc.contributor.authorTouitou, Ien_US
dc.contributor.authorSlim, Ren_US
dc.date.accessioned2012-05-29T06:14:20Z-
dc.date.available2012-05-29T06:14:20Z-
dc.date.issued2011en_US
dc.identifier.citationJournal Of Medical Genetics, 2011, v. 48 n. 8, p. 540-548en_US
dc.identifier.issn0022-2593en_US
dc.identifier.urihttp://hdl.handle.net/10722/148644-
dc.description.abstractBackground: NLRP7 mutations are responsible for recurrent molar pregnancies and associated reproductive wastage. To investigate the role of NLRP7 in sporadic moles and other forms of reproductive wastage, the authors sequenced this gene in a cohort of 135 patients with at least one hydatidiform mole or three spontaneous abortions; 115 of these were new patients. Methods/Results: All mutations were reviewed and their number, nature and locations correlated with the reproductive outcomes of the patients and histopathology of their products of conception. The presence of NLRP7 mutations was demonstrated in two patients with recurrent spontaneous abortions, and some rare non-synonymous variants (NSVs), present in the general population, were found to be associated with recurrent reproductive wastage. These rare NSVs were shown to be associated with lower secretion of interleukin 1β and tumour necrosis factor and therefore to have functional consequences similar to those seen in cells from patients with NLRP7 mutations. The authors also attempted to elucidate the cause of stillbirths observed in 13% of the patients with NLRP7 mutations by examining available placentas of the stillborn babies and live births from patients with mutations or rare NSVs. A number of severe to mild placental abnormalities were found, all of which are known risk factors for perinatal morbidity. Conclusions: The authors recommend close follow-up of patients with NLRP7 mutations and rare NSVs to prevent the death of the rare or reduced number of babies that reach term.en_US
dc.languageengen_US
dc.publisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/en_US
dc.relation.ispartofJournal of Medical Geneticsen_US
dc.subject.meshAbortion, Habitual - Geneticsen_US
dc.subject.meshAbortion, Spontaneous - Geneticsen_US
dc.subject.meshAdaptor Proteins, Signal Transducing - Geneticsen_US
dc.subject.meshAllelesen_US
dc.subject.meshCase-Control Studiesen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Association Studiesen_US
dc.subject.meshGenetic Predisposition To Diseaseen_US
dc.subject.meshHumansen_US
dc.subject.meshHydatidiform Mole - Geneticsen_US
dc.subject.meshInterleukin-1Beta - Secretionen_US
dc.subject.meshLeukocytes, Mononuclear - Secretionen_US
dc.subject.meshMutant Proteins - Metabolismen_US
dc.subject.meshMutation - Geneticsen_US
dc.subject.meshMutation, Missense - Geneticsen_US
dc.subject.meshPerinatal Mortalityen_US
dc.subject.meshPlacenta - Abnormalities - Metabolism - Pathologyen_US
dc.subject.meshPregnancyen_US
dc.subject.meshReproduction - Geneticsen_US
dc.subject.meshTumor Necrosis Factor-Alpha - Secretionen_US
dc.titleNLRP7 in the spectrum of reproductive wastage: Rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastageen_US
dc.typeArticleen_US
dc.identifier.emailCheung, A:anycheun@hkucc.hku.hken_US
dc.identifier.authorityCheung, A=rp00542en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1136/jmg.2011.089144en_US
dc.identifier.pmid21659348-
dc.identifier.scopuseid_2-s2.0-79961128210en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79961128210&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume48en_US
dc.identifier.issue8en_US
dc.identifier.spage540en_US
dc.identifier.epage548en_US
dc.identifier.isiWOS:000292958800008-
dc.publisher.placeUnited Kingdomen_US

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