Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage?

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridKaraman, Volkan/0000-0001-8777-3548
dc.authoridUYGUNER, OYA Zehra/0000-0002-2035-4338
dc.authoridOzgur, Hilal/0000-0002-1180-830X
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidGedikbasi, Ali/IZE-4172-2023
dc.authorwosidKaraman, Volkan/IYJ-8104-2023
dc.authorwosidGedikbasi, Ali/AAH-4007-2020
dc.authorwosidUYGUNER, OYA Zehra/Y-3899-2018
dc.contributor.authorUlker, V.
dc.contributor.authorGurkan, H.
dc.contributor.authorTozkir, H.
dc.contributor.authorKaraman, V.
dc.contributor.authorOzgur, H.
dc.contributor.authorNumanoglu, C.
dc.contributor.authorGedikbasi, A.
dc.date.accessioned2024-06-12T11:01:47Z
dc.date.available2024-06-12T11:01:47Z
dc.date.issued2013
dc.departmentTrakya Üniversitesien_US
dc.description.abstractObjective: Familial recurrent hydatidiform mole is an exceedingly rare clinical condition. Affected women are predisposed to molar pregnancies of diploid, biparental origin rather than androgenetic origin. At present, NLRP7 and KHDC3L (C6or (f) over bar 221) are the only genes known to be associated with familial recurrent hydatidiform mole. This study investigated the genetic dispositions in two large Turkish families with recurring molar conceptuses. Study design: Copy number variation analysis was performed followed by NLRP7 gene sequencing. The finding of a mono-allelic condition in one family led to investigation of the adjacent NLRP2 gene and recently associated KHDC3L gene. Sampled molar tissues were genotyped using microsatellite markers. Results: In one family, a homozygous single nucleotide insertion that caused a frameshift leading to an early stop codon, c.2940_2941insC (p.Glu981ArgfsX13), was identified in the affected sisters. In the other family, a heterozygous 60-kb deletion eliminating substantial portions of the NLRP2 and NLRP7 genes on one allele was found. Screening of NLRP2 and KHDC3L genes revealed no alterations that were considered to be pathological. Genotyping of six independent molar conceptions revealed that five were of diploid, biparental origin and one was of diandric, triploid origin. Conclusions: Two novel protein-truncating mutations in the NLRP7 gene were found to be associated with familial recurrent hydatidiform mole. Mutations in the NLRP7 gene causing recurrent biparental hydatidiform mole may also be associated with other forms of recurrent reproductive wastage. (C) 2013 Elsevier Ireland Ltd. All rights reserved.en_US
dc.identifier.doi10.1016/j.ejogrb.2013.06.028
dc.identifier.endpage192en_US
dc.identifier.issn0301-2115
dc.identifier.issue1en_US
dc.identifier.pmid23880596en_US
dc.identifier.scopus2-s2.0-84883050896en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage188en_US
dc.identifier.urihttps://doi.org/10.1016/j.ejogrb.2013.06.028
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21018
dc.identifier.volume170en_US
dc.identifier.wosWOS:000325122000036en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Science Bven_US
dc.relation.ispartofEuropean Journal Of Obstetrics & Gynecology And Reproductive Biologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFamilial Recurrent Hydatidiform Moleen_US
dc.subjectNLRP7en_US
dc.subjectKHDC3Len_US
dc.subjectRecurrent Reproductive Wastageen_US
dc.subjectCopy-Numberen_US
dc.subjectHeterogeneityen_US
dc.subjectConferen_US
dc.titleNovel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage?en_US
dc.typeArticleen_US

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