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Your search keyword '"Reyhani Sabet F"' showing total 3 results
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3 results on '"Reyhani Sabet F"'

1. Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

Author

Fariba Ramazanali, Maria Vittoria Cubellis, Maryam Varkiani, Basilia Acurzio, Laura Pignata, Nayeralsadat Fatemi, Najmeh Salehi, Massimo Carella, Angela Sparago, Alireza Biglari, Fakhreddin Reyhani-Sabet, Pierre F. Ray, Pietro Palumbo, Andrea Riccio, Orazio Palumbo, Mehdi Totonchi, Fatemi, N., Salehi, N., Pignata, L., Palumbo, P., Cubellis, M. V., Ramazanali, F., Ray, P., Varkiani, M., Reyhani-Sabet, F., Biglari, A., Sparago, A., Acurzio, B., Palumbo, O., Carella, M., Riccio, A., and Totonchi, M.

Subjects
0301 basic medicine, Abortion, Habitual, Biology, Cyclin B, 03 medical and health sciences, 0302 clinical medicine, Novel Disease Loci, Pregnancy, Exome Sequencing, Genetics, copy-number, Missense mutation, Humans, Allele, Gene, Genetics (clinical), Exome sequencing, Fetus, reproductive medicine, Meiosis II, Chromosome, Triploidy, Meiosis, 030104 developmental biology, 030220 oncology & carcinogenesis, Oocytes, Female, Genomic imprinting
Abstract

BackgroundTriploidy is one of the most common chromosome abnormalities affecting human gestation and accounts for an important fraction of first-trimester miscarriages. Triploidy has been demonstrated in a few cases of recurrent pregnancy loss (RPL) but its molecular mechanisms are unknown. This study aims to identify the genetic cause of RPL associated with fetus triploidy.MethodsWe investigated genomic imprinting, genotyped sequence-tagged site (STS) markers and performed exome sequencing in a family including two sisters with RPL. Moreover, we evaluated oocyte maturation in vivo and in vitro and effect of the candidate protein variant in silico.ResultsWhile features of hydatidiform mole were excluded, the presence of triploidy of maternal origin was demonstrated in the fetuses. Oocyte maturation was deficient and all the maternally inherited pericentromeric STS alleles were homozygous in the fetuses. A deleterious missense variant (p.V1251D) of the cyclin B3 gene (CCNB3) affecting a residue conserved in placental mammals and located in a region that can interact with the cyclin-dependent kinase 1 or cyclin-dependent kinase 2 cosegregated in homozygosity with RPL.ConclusionHere, we report a family in which a damaging variant in cyclin B3 is associated with the failure of oocyte meiosis II and recurrent fetus triploidy, implicating a rationale for CCNB3 testing in RPL.

Published
2020
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2. Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism.

Author

Magharehabed M, Almadani N, Askari M, Naji M, Akbari A, Gourabi H, Sedighi Gilani MA, Reyhani Sabet F, Masoudi NS, and Totonchi M

Subjects
Adult, Humans, Karyotyping, Male, Oligospermia diagnosis, Abnormal Karyotype, Chimerism, Oligospermia genetics
Abstract

Chimerism, a rare human disorder, is assumed to be the result of an amalgamation of two separate zygotes in a single embryo. Studies have shown that the phenotypic spectrum of chimerism is variable and there is no definite genotype-phenotype correlation in patients with chimerism, therefore a majority of cases might remain undiagnosed. This study aims to investigate the possible mechanism of the chimerism in a 46,XX/46,XY infertile and phenotypically normal male, with 46,XX blood karyotype and normal spermatogenesis. We have used Interphase-FISH analysis to study the CEPX and CEPY regions on buccal and urine samples as well as molecular analysis of polymorphic short tandem repeats (STR) markers from 34 loci in order to discover the origin of 46,XX/46,XY. Analysis of X-linked and autosomal STR markers on blood, buccal tissue, urine, fibroblast and testis biopsy samples of the proband along with the blood sample of the patient's parents and siblings, showed divergent karyotypes in different tissues and tetragametic chimerism was diagnosed., (© 2019 Blackwell Verlag GmbH.)

Published
2019
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3. Thrombophilic genes alterations as risk factor for recurrent pregnancy loss.

Author

Farahmand K, Totonchi M, Hashemi M, Reyhani Sabet F, Kalantari H, Gourabi H, and Mohseni Meybodi A

Subjects
Adult, Case-Control Studies, Female, Gene Frequency, Genotype, Homozygote, Humans, Iran, Polymerase Chain Reaction, Pregnancy, Risk Factors, Abortion, Habitual genetics, Factor V genetics, Methylenetetrahydrofolate Reductase (NADPH2) genetics, Mutation, Polymorphism, Genetic, Prothrombin genetics
Abstract

Objective: The important polymorphisms leading to inherited thrombophilia are Factor V Leiden (FVL), Prothrombin G20210A and MTHFR C677T and A1298C. The frequencies also the correlation among these polymorphisms and RPL have been reported controversially in various populations. Our clinic is one of the referral centers in reproductive biomedicine in which patients in all over Iran refer to; thus the results of this study could be considered clinically beneficial. Besides, in the present study, not only the frequency of specific but also multiple thrombophilic gene alterations were compared in Iranian women with RPL and a control group., Methods: The patients group comprised 330 women with three or more consecutive RPLs. The control population included 350 women with at least one child and no history of pregnancy loss. FVL, Prothrombin G20210A and MTHFR C677T polymorphisms were analyzed by Strip assay kit. MTHFR A1298C was genotyped by PCR-RFLP., Results: The frequencies of FVL, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C mutations in patients were 8.48, 4.24, 45.45 and 59.39%, and in controls were 2.86, 2.86, 34.28 and 6%, respectively., Conclusions: The present data showed that FVL, MTHFR polymorphisms also combined with thrombophilic gene mutations have a strong association with RPL.

Published
2016
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