Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

Abstract Glycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests. To evaluate the patients with particular diagnosis features characterizing GSD, an observa...

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Autores principales:	Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Mohammad Hadi Imanieh, Mahmood Haghighat, Seyed Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Amirreza Jassbi, Marjan Mahboubifar, Alireza Alborzi
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/105812549bb545ea83b52fe7f99514fb
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spelling	oai:doaj.org-article:105812549bb545ea83b52fe7f99514fb2021-12-02T18:17:54ZClinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing10.1038/s41598-021-86338-42045-2322https://doaj.org/article/105812549bb545ea83b52fe7f99514fb2021-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-86338-4https://doaj.org/toc/2045-2322Abstract Glycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests. To evaluate the patients with particular diagnosis features characterizing GSD, an observational retrospective case study was designed by performing a targeted gene sequencing (TGS) for accurate subtyping. A total of the 15 pediatric patients were admitted to our hospital and referred for molecular genetic testing using TGS. Eight genes namely SLC37A4, AGL, GBE1, PYGL, PHKB, PGAM2, and PRKAG2 were detected to be responsible for the onset of the clinical symptoms. A total number of 15 variants were identified i.e. mostly loss-of-function (LoF) variants, of which 10 variants were novel. Finally, diagnosis of GSD types Ib, III, IV, VI, IXb, IXc, X, and GSD of the heart, lethal congenital was made in 13 out of the 14 patients. Notably, GSD-IX and GSD of the heart-lethal congenital (i.e. PRKAG2 deficiency) patients have been reported in Iran for the first time which shown the development of liver cirrhosis with novel variants. These results showed that TGS, in combination with clinical, biochemical, and pathological hallmarks, could provide accurate and high-throughput results for diagnosing and sub-typing GSD and related diseases.Zahra BeyzaeiFatih EzguBita GeramizadehMohammad Hadi ImaniehMahmood HaghighatSeyed Mohsen DehghaniNaser HonarMojgan ZahmatkeshanAmirreza JassbiMarjan MahboubifarAlireza AlborziNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Zahra Beyzaei Fatih Ezgu Bita Geramizadeh Mohammad Hadi Imanieh Mahmood Haghighat Seyed Mohsen Dehghani Naser Honar Mojgan Zahmatkeshan Amirreza Jassbi Marjan Mahboubifar Alireza Alborzi Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing
description	Abstract Glycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests. To evaluate the patients with particular diagnosis features characterizing GSD, an observational retrospective case study was designed by performing a targeted gene sequencing (TGS) for accurate subtyping. A total of the 15 pediatric patients were admitted to our hospital and referred for molecular genetic testing using TGS. Eight genes namely SLC37A4, AGL, GBE1, PYGL, PHKB, PGAM2, and PRKAG2 were detected to be responsible for the onset of the clinical symptoms. A total number of 15 variants were identified i.e. mostly loss-of-function (LoF) variants, of which 10 variants were novel. Finally, diagnosis of GSD types Ib, III, IV, VI, IXb, IXc, X, and GSD of the heart, lethal congenital was made in 13 out of the 14 patients. Notably, GSD-IX and GSD of the heart-lethal congenital (i.e. PRKAG2 deficiency) patients have been reported in Iran for the first time which shown the development of liver cirrhosis with novel variants. These results showed that TGS, in combination with clinical, biochemical, and pathological hallmarks, could provide accurate and high-throughput results for diagnosing and sub-typing GSD and related diseases.
format	article
author	Zahra Beyzaei Fatih Ezgu Bita Geramizadeh Mohammad Hadi Imanieh Mahmood Haghighat Seyed Mohsen Dehghani Naser Honar Mojgan Zahmatkeshan Amirreza Jassbi Marjan Mahboubifar Alireza Alborzi
author_facet	Zahra Beyzaei Fatih Ezgu Bita Geramizadeh Mohammad Hadi Imanieh Mahmood Haghighat Seyed Mohsen Dehghani Naser Honar Mojgan Zahmatkeshan Amirreza Jassbi Marjan Mahboubifar Alireza Alborzi
author_sort	Zahra Beyzaei
title	Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing
title_short	Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing
title_full	Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing
title_fullStr	Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing
title_full_unstemmed	Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing
title_sort	clinical and genetic spectrum of glycogen storage disease in iranian population using targeted gene sequencing
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/105812549bb545ea83b52fe7f99514fb
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Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

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