Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran
Abstract Background Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O‐ as well as N‐glycosylation pathways. CDG patien...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-02-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.2099 |
| _version_ | 1797903414218194944 |
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| author | Atefe Papi Mina Zamani Gholamreza Shariati Alireza Sedaghat Tahere Seifi Samira Negahdari Sahar Sadat Sedighzadeh Jawaher Zeighami Alihossein Saberi Mohammad Hamid Hamid Galehdari |
| author_facet | Atefe Papi Mina Zamani Gholamreza Shariati Alireza Sedaghat Tahere Seifi Samira Negahdari Sahar Sadat Sedighzadeh Jawaher Zeighami Alihossein Saberi Mohammad Hamid Hamid Galehdari |
| author_sort | Atefe Papi |
| collection | DOAJ |
| description | Abstract Background Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O‐ as well as N‐glycosylation pathways. CDG patients show a broad spectrum of clinical presentations; many GSD types (PGM1‐CDG) have muscle involvement and hypoglycemia. Methods We applied WES for all seven patients presenting GSD and CDG symptoms. Then we analyzed the data using various tools to predict pathogenic variants in genes related to the patients' diseases. Results In the present study, we identified pathogenic variants in Iranian patients suffering from GSD and CDG, which can be helpful for patient management, and family counseling. We detected seven pathogenic variants using whole exome sequencing (WES) in known AGL (c.1998A>G, c.3635T>C, c.3682C>T), PGM1 (c.779G>A), DPM1 (c.742T>C), RFT1 (c.127A>G), and GAA (c.1314C>A) genes. Conclusion The suspected clinical diagnosis of CDG and GSD patients was confirmed by identifying missense and or nonsense mutations in PGM1, DPM1, RFT1, GAA, and AGL genes by WES of all 7 cases. This study helps us understand the scenario of the disorder causes and consider the variants for quick disease diagnosis. |
| first_indexed | 2024-04-10T09:32:30Z |
| format | Article |
| id | doaj.art-e7160f880c5e4592936d54159ff4662d |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-10T09:32:30Z |
| publishDate | 2023-02-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-e7160f880c5e4592936d54159ff4662d2023-02-18T19:05:42ZengWileyMolecular Genetics & Genomic Medicine2324-92692023-02-01112n/an/a10.1002/mgg3.2099Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from IranAtefe Papi0Mina Zamani1Gholamreza Shariati2Alireza Sedaghat3Tahere Seifi4Samira Negahdari5Sahar Sadat Sedighzadeh6Jawaher Zeighami7Alihossein Saberi8Mohammad Hamid9Hamid Galehdari10Department of Genetics, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz IranDepartment of Genetics, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz IranNarges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz IranNarges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz IranDepartment of Genetics, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz IranNarges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz IranDepartment of Genetics, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz IranNarges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz IranNarges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz IranDepartment of Molecular Medicine, Biotechnology Research Center Pasteur Institute of Iran Tehran IranDepartment of Genetics, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz IranAbstract Background Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O‐ as well as N‐glycosylation pathways. CDG patients show a broad spectrum of clinical presentations; many GSD types (PGM1‐CDG) have muscle involvement and hypoglycemia. Methods We applied WES for all seven patients presenting GSD and CDG symptoms. Then we analyzed the data using various tools to predict pathogenic variants in genes related to the patients' diseases. Results In the present study, we identified pathogenic variants in Iranian patients suffering from GSD and CDG, which can be helpful for patient management, and family counseling. We detected seven pathogenic variants using whole exome sequencing (WES) in known AGL (c.1998A>G, c.3635T>C, c.3682C>T), PGM1 (c.779G>A), DPM1 (c.742T>C), RFT1 (c.127A>G), and GAA (c.1314C>A) genes. Conclusion The suspected clinical diagnosis of CDG and GSD patients was confirmed by identifying missense and or nonsense mutations in PGM1, DPM1, RFT1, GAA, and AGL genes by WES of all 7 cases. This study helps us understand the scenario of the disorder causes and consider the variants for quick disease diagnosis.https://doi.org/10.1002/mgg3.2099CDGGSDIranPathogenic genetic variantsWES |
| spellingShingle | Atefe Papi Mina Zamani Gholamreza Shariati Alireza Sedaghat Tahere Seifi Samira Negahdari Sahar Sadat Sedighzadeh Jawaher Zeighami Alihossein Saberi Mohammad Hamid Hamid Galehdari Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran Molecular Genetics & Genomic Medicine CDG GSD Iran Pathogenic genetic variants WES |
| title | Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran |
| title_full | Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran |
| title_fullStr | Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran |
| title_full_unstemmed | Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran |
| title_short | Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran |
| title_sort | whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from iran |
| topic | CDG GSD Iran Pathogenic genetic variants WES |
| url | https://doi.org/10.1002/mgg3.2099 |
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