International Journal of
Reproductive Biomedicine
Wed, May 14, 2025
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Volume 19, Issue 5 (Suppl- 2021)
IJRM 2021, 19(5): 149-149 |
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Fatemi NS, Salehi N, Pignata L, Palumbo P, Vittoria Cubellis M, Ramazanali F, et al et al . O-39 A novel biallelic missense variant in cyclin B3 is associated with failure of oocyte meiosis II and recurrent fetus triploidy. IJRM 2021; 19 (5) :149-149
URL: http://ijrm.ir/article-1-2972-en.html
URL: http://ijrm.ir/article-1-2972-en.html
Fatemi NS1 
, Salehi N2 , Pignata L3 , Palumbo P4 , Vittoria Cubellis M5 , Ramazanali F6 , Ray P7 , Varkiani M2 , Reyhani-Sabet F2 , Biglari A8 , Sparago A9 , Acurzio B3 , Palumbo O10 , Carella M10 , Riccio A3 , Totonchi M *11
, Salehi N2 , Pignata L3 , Palumbo P4 , Vittoria Cubellis M5 , Ramazanali F6 , Ray P7 , Varkiani M2 , Reyhani-Sabet F2 , Biglari A8 , Sparago A9 , Acurzio B3 , Palumbo O10 , Carella M10 , Riccio A3 , Totonchi M *11
1- Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
2- Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
3- Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, Università Degli Studi Della Campania Luigi Vanvitelli, Caserta, Italy. Institute of Genetics and Biophysics, Adriano Buzzati-Traverso, Consiglio Nazionale delle Ricerche, Naples, Italy.
4- IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
5- Department of Biology, Università Degli Studi di Napoli, Federico II, Napoli, Italy.
6- Department of Endocrinology and Female Infertility, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
7- Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, INSERM 1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France. Unité Médicale de génétique de l'infertilité et de diagnostic pré-implantatoire (GI-DPI), Centre Hospitalier Universitaire Grenoble Alpes, Grenoble, France.
8- Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.
9- Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, Università Degli Studi Della Campania Luigi Vanvitelli, Caserta, Italy.
10- IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
11- Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran. ,totonchimehdi@gmail.com
2- Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
3- Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, Università Degli Studi Della Campania Luigi Vanvitelli, Caserta, Italy. Institute of Genetics and Biophysics, Adriano Buzzati-Traverso, Consiglio Nazionale delle Ricerche, Naples, Italy.
4- IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
5- Department of Biology, Università Degli Studi di Napoli, Federico II, Napoli, Italy.
6- Department of Endocrinology and Female Infertility, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
7- Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, INSERM 1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France. Unité Médicale de génétique de l'infertilité et de diagnostic pré-implantatoire (GI-DPI), Centre Hospitalier Universitaire Grenoble Alpes, Grenoble, France.
8- Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.
9- Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, Università Degli Studi Della Campania Luigi Vanvitelli, Caserta, Italy.
10- IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
11- Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran. ,
Abstract: (219 Views)
Background: Recurrent pregnancy loss (RPL) is an important infertility-related complication affecting up to 5% of clinical gestations. The both parental and embryonal factors are associated with RPL. Triploidy is one of the common chromosomal abnormalities affecting pregnancy and accounts for an important portion of first-trimester abortions. Triploidy has been reported in some cases of RPL but its underlying molecular mechanism remains unknown.
Objective: The aim of this study was to determine the genetic causes of RPL associated with fetus triploidy in an Iranian family.
Materials and Methods: We examined the status of genomic imprinting, short tandem repeat (STR) markers and performed the whole exome sequencing in a family including two sisters with RPL history. Additionally, we assessed oocyte maturation in vivo and in vitro and effect of the candidate protein variant in silico.
Results: Triploidy of maternal origin was confirmed in the aborted fetuses by STR markers genotyping. All the maternally inherited pericentromeric STR alleles were homozygous in the fetuses and oocytes maturation was deficient. A new deleterious missense variant (c.T4050A, p.V1251D) of the cyclin B3 gene (CCNB3) was identified by whole exome sequencing. The homozygous mutation affecting a residue conserved in placental mammals and located in a region that can interact with the cyclin-dependent kinases co-segregated in homozygosity with RPL.
Conclusion: Here, we report a family in which a novel damaging variant in cyclin B3 is associated with the failure of meiosis II in oocyte and recurrent fetus triploidy, implicating a rationale for CCNB3 testing in RPL patients.
Objective: The aim of this study was to determine the genetic causes of RPL associated with fetus triploidy in an Iranian family.
Materials and Methods: We examined the status of genomic imprinting, short tandem repeat (STR) markers and performed the whole exome sequencing in a family including two sisters with RPL history. Additionally, we assessed oocyte maturation in vivo and in vitro and effect of the candidate protein variant in silico.
Results: Triploidy of maternal origin was confirmed in the aborted fetuses by STR markers genotyping. All the maternally inherited pericentromeric STR alleles were homozygous in the fetuses and oocytes maturation was deficient. A new deleterious missense variant (c.T4050A, p.V1251D) of the cyclin B3 gene (CCNB3) was identified by whole exome sequencing. The homozygous mutation affecting a residue conserved in placental mammals and located in a region that can interact with the cyclin-dependent kinases co-segregated in homozygosity with RPL.
Conclusion: Here, we report a family in which a novel damaging variant in cyclin B3 is associated with the failure of meiosis II in oocyte and recurrent fetus triploidy, implicating a rationale for CCNB3 testing in RPL patients.
Type of Study: Congress Abstract |
Subject:
Pregnancy Health
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