Preimplantation genetic testing for mucopolysaccharidosis type II: a case report
Aim: description of an assisted reproductive technology (ART) program with preimplantation genetic testing (PGT) for spinocerebellar ataxia type 1 (SCA1) in combination with preimplantation chromosome analysis. Methods. Planning and implementation of PGT was performed for a couple (aged 30 and 31) f...
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2022
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Online Access: | https://www.medgen-journal.ru/jour/article/view/2156 https://doi.org/10.25557/2073-7998.2022.10.12-18 |
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Open Polar |
collection |
Medical Genetics (E-Journal) |
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ftjmedgen |
language |
Russian |
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ген ATXN1 Preimplantation testing for monogenic/single gene defects spinocerebellar ataxia type 1 PGT-A ART ATXN1 gene преимплантационное генетическое тестирование моногенных болезней cпиноцеребеллярная атаксия первого типа (СЦА1) ПГТ-А ВРТ |
spellingShingle |
ген ATXN1 Preimplantation testing for monogenic/single gene defects spinocerebellar ataxia type 1 PGT-A ART ATXN1 gene преимплантационное генетическое тестирование моногенных болезней cпиноцеребеллярная атаксия первого типа (СЦА1) ПГТ-А ВРТ E. V. Soloveva M. M. Skleimova L. I. Minaycheva D. I. Zhigalina E. O. Churkin Y. V. Okkel Е. В. Соловьёва М. М. Склеймова Л. И. Минайчева Д. И. Жигалина Е. О. Чуркин Ю. В. Оккель Preimplantation genetic testing for mucopolysaccharidosis type II: a case report |
topic_facet |
ген ATXN1 Preimplantation testing for monogenic/single gene defects spinocerebellar ataxia type 1 PGT-A ART ATXN1 gene преимплантационное генетическое тестирование моногенных болезней cпиноцеребеллярная атаксия первого типа (СЦА1) ПГТ-А ВРТ |
description |
Aim: description of an assisted reproductive technology (ART) program with preimplantation genetic testing (PGT) for spinocerebellar ataxia type 1 (SCA1) in combination with preimplantation chromosome analysis. Methods. Planning and implementation of PGT was performed for a couple (aged 30 and 31) from Sakha (Yakutia) at risk of SCA1. We have developed PGT system for monogenic diseases (PGT-M), which includes the analysis of the pathogenic variant of the ATXN1 gene (NM_000332.3(ATXN1):c.589_591CAG(36_38) (p.Gln208_His209ins(Gln)n) and polymorphic STR markers linked to the gene. For setup study DNA was isolated from the blood of the patient and partner, the patient’s sister and father, and a healthy unrelated donor. The study was performed by nested PCR with detection by fragment analysis. The developed system was validated on single cell samples. Ovulation stimulation and embryological procedures during the ART program were performed according to standard protocols, fertilization was performed by ICSI. Embryo biopsy was performed on the 5th day of development. Whole genome amplification (WGA) for trophectoderm samples was performed using multiple displacement amplification (MDA). WGA product was used for PGT-M according to the system developed at the setup stage, then for chromosomal microarray analysis of aneuploidy (PGT-A). The cryotransfer was performed taking into account the results of preimplantation testing. Results. The developed PGT-M system included analysis of the ATXN1 gene fragment carrying CAG repeats and analysis of 9 informative STR markers flanking the gene. Five mature oocytes were obtained in the ART program. Three embryos reached the blastocyst stage and were biopsied; WGA and PGT-M were performed for them. The mutant allele was well identified in two embryos. One of the three embryos was determined to be normal for the ATXN1 genotype and maternal STR haplotype. PGT-A was performed for one normal embryo, the result showed a normal chromosomal status. The embryo was transferred into the ... |
format |
Article in Journal/Newspaper |
author |
E. V. Soloveva M. M. Skleimova L. I. Minaycheva D. I. Zhigalina E. O. Churkin Y. V. Okkel Е. В. Соловьёва М. М. Склеймова Л. И. Минайчева Д. И. Жигалина Е. О. Чуркин Ю. В. Оккель |
author_facet |
E. V. Soloveva M. M. Skleimova L. I. Minaycheva D. I. Zhigalina E. O. Churkin Y. V. Okkel Е. В. Соловьёва М. М. Склеймова Л. И. Минайчева Д. И. Жигалина Е. О. Чуркин Ю. В. Оккель |
author_sort |
E. V. Soloveva |
title |
Preimplantation genetic testing for mucopolysaccharidosis type II: a case report |
title_short |
Preimplantation genetic testing for mucopolysaccharidosis type II: a case report |
title_full |
Preimplantation genetic testing for mucopolysaccharidosis type II: a case report |
title_fullStr |
Preimplantation genetic testing for mucopolysaccharidosis type II: a case report |
title_full_unstemmed |
Preimplantation genetic testing for mucopolysaccharidosis type II: a case report |
title_sort |
preimplantation genetic testing for mucopolysaccharidosis type ii: a case report |
publisher |
Publishing House «Genius Media» LLC |
publishDate |
2022 |
url |
https://www.medgen-journal.ru/jour/article/view/2156 https://doi.org/10.25557/2073-7998.2022.10.12-18 |
geographic |
Sakha |
geographic_facet |
Sakha |
genre |
Yakutia |
genre_facet |
Yakutia |
op_source |
Medical Genetics; Том 21, № 10 (2022); 12-18 Медицинская генетика; Том 21, № 10 (2022); 12-18 2073-7998 |
op_relation |
https://www.medgen-journal.ru/jour/article/view/2156/1623 Zoghbi H.Y., Orr H.T. Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1. The Journal of Biological Chemistry. 2009;284(12):7425-7429. doi:10.1074/jbc.R800041200. Воловиков Е.А., Давиденко А.В., Лагарькова М.А. Молекулярные механизмы атаксии первого типа. Генетика. 2020;56(2):127-141. doi:10.31857/S0016675820020125 Фёдоров А.И., Сухомясова А.Л., Голикова П.И. и др. Распространённость спиноцеребеллярной атаксии 1 типа в Якутии: современное состояние. Медицинская генетика. 2020; 56(2): 127-141. doi:10.25557/2073-7998.2020.07.29-30. Srinivasan S.R., Shakkottai V.G. Moving Towards Therapy in SCA1: Insights from Molecular Mechanisms, Identification of Novel Targets, and Planning for Human Trials. Neurotherapeutics. 2019;16:999-1008. https://doi.org/10.1007/s13311-019-00763-y. Drusedau M., Dreesen J.C.F.M., Die-Smulders C.D. Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)(n) repeat detection. Mol Hum Reprod. 2004;10(1):71-5. doi:10.1093/molehr/gah008. Verlinsky Y., Kuliev A. Atlas of Preimplantation Genetic Diagnosis. Second edition. 2005. Taylor & Francis: 281. Moutou C., Nicod J.C., Gardes N., Viville S. Birth after preimplantation genetic diagnosis (PGD) of spinocerebellar ataxia 2 (SCA2). Prenat Diagn. 2008;28:126-30. doi:10.1002/pd.1909. Tur-Kaspa I., Jeelani R., Doraiswamy P.M. Preimplantation genetic diagnosis for inherited neurological disorders. Nat Rev Neurol. 2014;10(7):417-24. doi:10.1038/nrneurol.2014.84. Liao C.H., Chang M.Y., Ma G.C. et al. Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory. Diagnostics. 2019;9:44. doi:10.3390/diagnostics9020044. Shi D., Xu J., Niu W., et al. Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases. Journal of Assisted Reproduction and Genetics. 2020;37:539-548. https://doi.org/10.1007/s10815-020-01718-5. Cahn S., Rosen A., Wilmot G. Spinocerebellar Ataxia Patient Perceptions Regarding Reproductive Options. Movement Disorders Clinical Practice. 2020;7(1):37-44. doi:10.1002/mdc3.12859. Ethics Committee of the American Society for Reproductive Medicine. Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion. Fertility and Sterility. 2018;109(6):989-992. https://doi.org/10.1016/j.fertnstert.2018.04.003. Вспомогательные репродуктивные технологии и искусственная инсеминация. Клинические рекомендации (протокол лечения). МЗ РФ 05 марта 2019 года № 15-4/и/2-1908. 169 с. http://www.rahr.ru/pech_mat_norm.php. ESHRE PGT Consortium and SIG-Embryology BiopsyWorking Group, Kokkali G, Coticchio G. et al. ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for PGT. Human Reproduction Open. 2020:1-12. doi:10.1093/hropen/hoaa020. ESHRE PGT-M Working Group, Carvalho F, Moutou C, et al. ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders Human Reproduction Open. 2020:1-18. doi:10.1093/hropen/hoaa018. ESHRE PGT-SR/PGT-A Working Group, Coonen E, Rubio C. et al. ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations. Human Reproduction Open. 2020: Human Reproduction Open, pp. 1-20, 2020. doi:10.1093/hropen/hoaa017. Sequeiros J., Seneca S., Martindale J. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. European Journal of Human Genetics. 2010;18:1188-1195. doi:10.1038/ejhg.2010.10. https://www.medgen-journal.ru/jour/article/view/2156 doi:10.25557/2073-7998.2022.10.12-18 |
op_rights |
Authors who publish with this journal agree to the following terms:Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access). Авторы, публикующие статьи в данном журнале, соглашаются на следующее:Авторы сохраняют за собой автороские права и предоставляют журналу право первой публикации работы, которая по истечении 6 месяцев после публикации автоматически лицензируется на условиях Creative Commons Attribution License , которая позволяет другим распространять данную работу с обязательным сохранением ссылок на авторов оригинальной работы и оригинальную публикацию в этом журнале.Авторы имеют право размещать их работу в сети Интернет (например в институтском хранилище или персональном сайте) до и во время процесса рассмотрения ее данным журналом, так как это может привести к продуктивному обсуждению и большему количеству ссылок на данную работу (См. The Effect of Open Access). |
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https://doi.org/10.25557/2073-7998.2022.10.12-18 https://doi.org/10.1074/jbc.R800041200 https://doi.org/10.31857/S0016675820020125 https://doi.org/10.25557/2073-7998.2020.07.29-30 https://doi.org/10.1007/s13311-019-00763-y https://doi.org/10.109 |
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ftjmedgen:oai:oai.medgen.elpub.ru:article/2156 2023-05-15T18:45:09+02:00 Preimplantation genetic testing for mucopolysaccharidosis type II: a case report Проведение преимплантационного исследования спиноцеребеллярной атаксии первого типа E. V. Soloveva M. M. Skleimova L. I. Minaycheva D. I. Zhigalina E. O. Churkin Y. V. Okkel Е. В. Соловьёва М. М. Склеймова Л. И. Минайчева Д. И. Жигалина Е. О. Чуркин Ю. В. Оккель 2022-12-08 application/pdf https://www.medgen-journal.ru/jour/article/view/2156 https://doi.org/10.25557/2073-7998.2022.10.12-18 rus rus Publishing House «Genius Media» LLC https://www.medgen-journal.ru/jour/article/view/2156/1623 Zoghbi H.Y., Orr H.T. Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1. The Journal of Biological Chemistry. 2009;284(12):7425-7429. doi:10.1074/jbc.R800041200. Воловиков Е.А., Давиденко А.В., Лагарькова М.А. Молекулярные механизмы атаксии первого типа. Генетика. 2020;56(2):127-141. doi:10.31857/S0016675820020125 Фёдоров А.И., Сухомясова А.Л., Голикова П.И. и др. Распространённость спиноцеребеллярной атаксии 1 типа в Якутии: современное состояние. Медицинская генетика. 2020; 56(2): 127-141. doi:10.25557/2073-7998.2020.07.29-30. Srinivasan S.R., Shakkottai V.G. Moving Towards Therapy in SCA1: Insights from Molecular Mechanisms, Identification of Novel Targets, and Planning for Human Trials. Neurotherapeutics. 2019;16:999-1008. https://doi.org/10.1007/s13311-019-00763-y. Drusedau M., Dreesen J.C.F.M., Die-Smulders C.D. Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)(n) repeat detection. Mol Hum Reprod. 2004;10(1):71-5. doi:10.1093/molehr/gah008. Verlinsky Y., Kuliev A. Atlas of Preimplantation Genetic Diagnosis. Second edition. 2005. Taylor & Francis: 281. Moutou C., Nicod J.C., Gardes N., Viville S. Birth after preimplantation genetic diagnosis (PGD) of spinocerebellar ataxia 2 (SCA2). Prenat Diagn. 2008;28:126-30. doi:10.1002/pd.1909. Tur-Kaspa I., Jeelani R., Doraiswamy P.M. Preimplantation genetic diagnosis for inherited neurological disorders. Nat Rev Neurol. 2014;10(7):417-24. doi:10.1038/nrneurol.2014.84. Liao C.H., Chang M.Y., Ma G.C. et al. Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory. Diagnostics. 2019;9:44. doi:10.3390/diagnostics9020044. Shi D., Xu J., Niu W., et al. Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases. Journal of Assisted Reproduction and Genetics. 2020;37:539-548. https://doi.org/10.1007/s10815-020-01718-5. Cahn S., Rosen A., Wilmot G. Spinocerebellar Ataxia Patient Perceptions Regarding Reproductive Options. Movement Disorders Clinical Practice. 2020;7(1):37-44. doi:10.1002/mdc3.12859. Ethics Committee of the American Society for Reproductive Medicine. Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion. Fertility and Sterility. 2018;109(6):989-992. https://doi.org/10.1016/j.fertnstert.2018.04.003. Вспомогательные репродуктивные технологии и искусственная инсеминация. Клинические рекомендации (протокол лечения). МЗ РФ 05 марта 2019 года № 15-4/и/2-1908. 169 с. http://www.rahr.ru/pech_mat_norm.php. ESHRE PGT Consortium and SIG-Embryology BiopsyWorking Group, Kokkali G, Coticchio G. et al. ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for PGT. Human Reproduction Open. 2020:1-12. doi:10.1093/hropen/hoaa020. ESHRE PGT-M Working Group, Carvalho F, Moutou C, et al. ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders Human Reproduction Open. 2020:1-18. doi:10.1093/hropen/hoaa018. ESHRE PGT-SR/PGT-A Working Group, Coonen E, Rubio C. et al. ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations. Human Reproduction Open. 2020: Human Reproduction Open, pp. 1-20, 2020. doi:10.1093/hropen/hoaa017. Sequeiros J., Seneca S., Martindale J. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. European Journal of Human Genetics. 2010;18:1188-1195. doi:10.1038/ejhg.2010.10. https://www.medgen-journal.ru/jour/article/view/2156 doi:10.25557/2073-7998.2022.10.12-18 Authors who publish with this journal agree to the following terms:Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access). Авторы, публикующие статьи в данном журнале, соглашаются на следующее:Авторы сохраняют за собой автороские права и предоставляют журналу право первой публикации работы, которая по истечении 6 месяцев после публикации автоматически лицензируется на условиях Creative Commons Attribution License , которая позволяет другим распространять данную работу с обязательным сохранением ссылок на авторов оригинальной работы и оригинальную публикацию в этом журнале.Авторы имеют право размещать их работу в сети Интернет (например в институтском хранилище или персональном сайте) до и во время процесса рассмотрения ее данным журналом, так как это может привести к продуктивному обсуждению и большему количеству ссылок на данную работу (См. The Effect of Open Access). CC-BY Medical Genetics; Том 21, № 10 (2022); 12-18 Медицинская генетика; Том 21, № 10 (2022); 12-18 2073-7998 ген ATXN1 Preimplantation testing for monogenic/single gene defects spinocerebellar ataxia type 1 PGT-A ART ATXN1 gene преимплантационное генетическое тестирование моногенных болезней cпиноцеребеллярная атаксия первого типа (СЦА1) ПГТ-А ВРТ info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Рецензированная статья 2022 ftjmedgen https://doi.org/10.25557/2073-7998.2022.10.12-18 https://doi.org/10.1074/jbc.R800041200 https://doi.org/10.31857/S0016675820020125 https://doi.org/10.25557/2073-7998.2020.07.29-30 https://doi.org/10.1007/s13311-019-00763-y https://doi.org/10.109 2022-12-13T17:54:42Z Aim: description of an assisted reproductive technology (ART) program with preimplantation genetic testing (PGT) for spinocerebellar ataxia type 1 (SCA1) in combination with preimplantation chromosome analysis. Methods. Planning and implementation of PGT was performed for a couple (aged 30 and 31) from Sakha (Yakutia) at risk of SCA1. We have developed PGT system for monogenic diseases (PGT-M), which includes the analysis of the pathogenic variant of the ATXN1 gene (NM_000332.3(ATXN1):c.589_591CAG(36_38) (p.Gln208_His209ins(Gln)n) and polymorphic STR markers linked to the gene. For setup study DNA was isolated from the blood of the patient and partner, the patient’s sister and father, and a healthy unrelated donor. The study was performed by nested PCR with detection by fragment analysis. The developed system was validated on single cell samples. Ovulation stimulation and embryological procedures during the ART program were performed according to standard protocols, fertilization was performed by ICSI. Embryo biopsy was performed on the 5th day of development. Whole genome amplification (WGA) for trophectoderm samples was performed using multiple displacement amplification (MDA). WGA product was used for PGT-M according to the system developed at the setup stage, then for chromosomal microarray analysis of aneuploidy (PGT-A). The cryotransfer was performed taking into account the results of preimplantation testing. Results. The developed PGT-M system included analysis of the ATXN1 gene fragment carrying CAG repeats and analysis of 9 informative STR markers flanking the gene. Five mature oocytes were obtained in the ART program. Three embryos reached the blastocyst stage and were biopsied; WGA and PGT-M were performed for them. The mutant allele was well identified in two embryos. One of the three embryos was determined to be normal for the ATXN1 genotype and maternal STR haplotype. PGT-A was performed for one normal embryo, the result showed a normal chromosomal status. The embryo was transferred into the ... Article in Journal/Newspaper Yakutia Medical Genetics (E-Journal) Sakha Frontiers in Earth Science 9 |