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In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report

Background: Congenital disorder of glycosylation (CDG) is a severe morphogenic and metabolic disorder that affects all of the systems of organs and is caused by a mutation of the gene PMM2, having a mortality rate of 20% during the first months of life. Results: Here we report the outcome of an in v...

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Autores principales: Doroftei, Bogdan, Nemtanu, Loredana, Ilie, Ovidiu-Dumitru, Simionescu, Gabriela, Ivanov, Iuliu, Anton, Emil, Puiu, Maria, Maftei, Radu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349484/
https://www.ncbi.nlm.nih.gov/pubmed/32630370
http://dx.doi.org/10.3390/genes11060697
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author Doroftei, Bogdan
Nemtanu, Loredana
Ilie, Ovidiu-Dumitru
Simionescu, Gabriela
Ivanov, Iuliu
Anton, Emil
Puiu, Maria
Maftei, Radu
author_facet Doroftei, Bogdan
Nemtanu, Loredana
Ilie, Ovidiu-Dumitru
Simionescu, Gabriela
Ivanov, Iuliu
Anton, Emil
Puiu, Maria
Maftei, Radu
author_sort Doroftei, Bogdan
collection PubMed
description Background: Congenital disorder of glycosylation (CDG) is a severe morphogenic and metabolic disorder that affects all of the systems of organs and is caused by a mutation of the gene PMM2, having a mortality rate of 20% during the first months of life. Results: Here we report the outcome of an in vitro fertilisation (IVF) cycle associated with preimplantation genetic testing for monogenic diseases (PGT-M) in a Romanian carrier couple for CDG type Ia with distinct mutations of the PMM2 gene. The embryonic biopsy was performed on day five of the blastocyst stage for six embryos. The amplification of the whole genome had been realized by using the PicoPLEX WGA kit. Using the Array Comparative Genomic Hybridisation technique, we detected both euploid and aneuploid embryos. The identification of the PMM2 mutation on exon 5 and exon 6 was performed for the euploid embryos through Sanger Sequencing with specific primers on ABI 3500. Of the six embryos tested, only three were euploid. One had compound heterozygosity and the remaining two were simple heterozygotes. Conclusion: PGT-M should be strongly considered for optimising embryo selection in partners with single-gene mutations in order to prevent transmission to the offspring.
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spelling pubmed-73494842020-07-14 In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report Doroftei, Bogdan Nemtanu, Loredana Ilie, Ovidiu-Dumitru Simionescu, Gabriela Ivanov, Iuliu Anton, Emil Puiu, Maria Maftei, Radu Genes (Basel) Case Report Background: Congenital disorder of glycosylation (CDG) is a severe morphogenic and metabolic disorder that affects all of the systems of organs and is caused by a mutation of the gene PMM2, having a mortality rate of 20% during the first months of life. Results: Here we report the outcome of an in vitro fertilisation (IVF) cycle associated with preimplantation genetic testing for monogenic diseases (PGT-M) in a Romanian carrier couple for CDG type Ia with distinct mutations of the PMM2 gene. The embryonic biopsy was performed on day five of the blastocyst stage for six embryos. The amplification of the whole genome had been realized by using the PicoPLEX WGA kit. Using the Array Comparative Genomic Hybridisation technique, we detected both euploid and aneuploid embryos. The identification of the PMM2 mutation on exon 5 and exon 6 was performed for the euploid embryos through Sanger Sequencing with specific primers on ABI 3500. Of the six embryos tested, only three were euploid. One had compound heterozygosity and the remaining two were simple heterozygotes. Conclusion: PGT-M should be strongly considered for optimising embryo selection in partners with single-gene mutations in order to prevent transmission to the offspring. MDPI 2020-06-25 /pmc/articles/PMC7349484/ /pubmed/32630370 http://dx.doi.org/10.3390/genes11060697 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Doroftei, Bogdan
Nemtanu, Loredana
Ilie, Ovidiu-Dumitru
Simionescu, Gabriela
Ivanov, Iuliu
Anton, Emil
Puiu, Maria
Maftei, Radu
In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report
title In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report
title_full In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report
title_fullStr In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report
title_full_unstemmed In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report
title_short In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report
title_sort in vitro fertilisation (ivf) associated with preimplantation genetic testing for monogenic diseases (pgt-m) in a romanian carrier couple for congenital disorder of glycosylation type ia (cdg-ia): a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349484/
https://www.ncbi.nlm.nih.gov/pubmed/32630370
http://dx.doi.org/10.3390/genes11060697
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