Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene

Congenital disorders of glycosylation (CDG) are a heterogeneous group of systemic disorders characterized by defects in glycosylation of lipids and proteins. One of the rare subtypes of CDG is CDG-Ij (MIM # 608093), which is caused by pathogenic mutations in DPAGT1, a gene encoding UDP-N-acetylgluco...

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Autores principales:	Zahra Tabatabaei, Khadijeh Karbalaie, Parham Habibzadeh, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi, Mohammad-Hossein Nasr Esfahani
Formato:	article
Lenguaje:	EN
Publicado:	Royan Institute (ACECR), Tehran 2021
Materias:	congenital disorders of glycosylation genetic testing in vitro fertilization next generation sequencing Medicine R Science Q
Acceso en línea:	https://doaj.org/article/f4fa053ad3eb45bf958f756920e6e919
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spelling	oai:doaj.org-article:f4fa053ad3eb45bf958f756920e6e9192021-11-07T08:11:25ZPre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene10.22074/cellj.2021.73352228-58062228-5814https://doaj.org/article/f4fa053ad3eb45bf958f756920e6e9192021-10-01T00:00:00Zhttps://celljournal.org/journal/article/fulltext/pre-implantation-genetic-diagnosis-in-a-family-with-a-novel-mutation-in-dpagt1-gene.pdfhttps://doaj.org/toc/2228-5806https://doaj.org/toc/2228-5814Congenital disorders of glycosylation (CDG) are a heterogeneous group of systemic disorders characterized by defects in glycosylation of lipids and proteins. One of the rare subtypes of CDG is CDG-Ij (MIM # 608093), which is caused by pathogenic mutations in DPAGT1, a gene encoding UDP-N-acetylglucosaminedolichyl-phosphate N acetylglucosaminephosphotransferase enzyme. This enzyme catalyzes the first step of oligosaccharide synthesis in glycoprotein biosynthesis pathway. Preimplantation genetic testing for monogenic disorders (PGT-M) is a diagnostic technique that can reveal the genetic profile of embryos before implantation phase of in vitro fertilization (IVF). Currently, this approach is performed using next generation sequencing (NGS) technology. Herein, with the help of whole-exome and Sanger sequencing, we detected a novel missense mutation (NM_001382, c.1217 A>G) in DPAGT1 gene in two families with consanguineous marriage. Using different online bioinformatics tools including MutationTaster, I-Mutant v2.0, T- Coffee, and CADD v1.0, this mutation was predicted pathogen. Finally, after performing PGT-M followed by successful pregnancy, a normal child was born in one of these families. In conclusion, we identified a novel pathogenic mutation in DPAGT1 in a family with multiple members affected by CDG, which extends the range of pathogenic variants associated with CDG and therefore facilitates early detection of the disease.Zahra TabatabaeiKhadijeh KarbalaieParham HabibzadehMohammad Ali Farazi FardMohammad Ali FaghihiMohammad-Hossein Nasr EsfahaniRoyan Institute (ACECR), Tehranarticlecongenital disorders of glycosylationgenetic testingin vitro fertilizationnext generation sequencingMedicineRScienceQENCell Journal, Vol 23, Iss 5, Pp 593-597 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	congenital disorders of glycosylation genetic testing in vitro fertilization next generation sequencing Medicine R Science Q
spellingShingle	congenital disorders of glycosylation genetic testing in vitro fertilization next generation sequencing Medicine R Science Q Zahra Tabatabaei Khadijeh Karbalaie Parham Habibzadeh Mohammad Ali Farazi Fard Mohammad Ali Faghihi Mohammad-Hossein Nasr Esfahani Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene
description	Congenital disorders of glycosylation (CDG) are a heterogeneous group of systemic disorders characterized by defects in glycosylation of lipids and proteins. One of the rare subtypes of CDG is CDG-Ij (MIM # 608093), which is caused by pathogenic mutations in DPAGT1, a gene encoding UDP-N-acetylglucosaminedolichyl-phosphate N acetylglucosaminephosphotransferase enzyme. This enzyme catalyzes the first step of oligosaccharide synthesis in glycoprotein biosynthesis pathway. Preimplantation genetic testing for monogenic disorders (PGT-M) is a diagnostic technique that can reveal the genetic profile of embryos before implantation phase of in vitro fertilization (IVF). Currently, this approach is performed using next generation sequencing (NGS) technology. Herein, with the help of whole-exome and Sanger sequencing, we detected a novel missense mutation (NM_001382, c.1217 A>G) in DPAGT1 gene in two families with consanguineous marriage. Using different online bioinformatics tools including MutationTaster, I-Mutant v2.0, T- Coffee, and CADD v1.0, this mutation was predicted pathogen. Finally, after performing PGT-M followed by successful pregnancy, a normal child was born in one of these families. In conclusion, we identified a novel pathogenic mutation in DPAGT1 in a family with multiple members affected by CDG, which extends the range of pathogenic variants associated with CDG and therefore facilitates early detection of the disease.
format	article
author	Zahra Tabatabaei Khadijeh Karbalaie Parham Habibzadeh Mohammad Ali Farazi Fard Mohammad Ali Faghihi Mohammad-Hossein Nasr Esfahani
author_facet	Zahra Tabatabaei Khadijeh Karbalaie Parham Habibzadeh Mohammad Ali Farazi Fard Mohammad Ali Faghihi Mohammad-Hossein Nasr Esfahani
author_sort	Zahra Tabatabaei
title	Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene
title_short	Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene
title_full	Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene
title_fullStr	Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene
title_full_unstemmed	Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene
title_sort	pre-implantation genetic testing for monogenic disorders (pgt-m) in a family with a novel mutation in dpagt1 gene
publisher	Royan Institute (ACECR), Tehran
publishDate	2021
url	https://doaj.org/article/f4fa053ad3eb45bf958f756920e6e919
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Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene

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