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Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort Publisher



Moghimi P1, 2 ; Hashemigorji F3 ; Jamshidi S1 ; Tehrani Fateh S4 ; Salehpour S5 ; Sadeghi H7 ; Norouzi Rostami F6 ; Mirfakhraie R7 ; Miryounesi M1, 7 ; Ghasemi MR1, 7
Authors
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Authors Affiliations
  1. 1. Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. School of Medicine, Islamic Azad University, Tehran Medical sciences, Tehran, Iran
  3. 3. Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran
  5. 5. Department of Pediatrics, Clinical Research Development Unit, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  6. 6. Department of Chemistry, Faculty of Science, Ferdowsi University of Mashhad, Mashhad, Iran
  7. 7. Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Source: Biochemical Genetics Published:2024


Abstract

Glycogen storage diseases (GSDs) are a group of rare inherited metabolic disorders characterized by clinical, locus, and allele heterogeneity. This study aims to investigate the phenotype and genotype spectrum of GSDs in a cohort of 14 families from Iran using whole-exome sequencing (WES) and variant analysis. WES was performed on 14 patients clinically suspected of GSDs. Variant analysis was performed to identify genetic variants associated with GSDs. A total of 13 variants were identified, including six novel variants, and seven previously reported pathogenic variants in genes such as AGL, G6PC, GAA, PYGL, PYGM, GBE1, SLC37A4, and PHKA2. Most types of GSDs observed in the cohort were associated with hepatomegaly, which was the most common clinical presentation. This study provides valuable insights into the phenotype and genotype spectrum of GSDs in a cohort of Iranian patients. The identification of novel variants adds to the growing body of knowledge regarding the genetic landscape of GSDs and has implications for genetic counseling and future therapeutic interventions. The diverse nature of GSDs underscores the need for comprehensive genetic testing methods to improve diagnostic accuracy. Continued research in this field will enhance our understanding of GSDs, ultimately leading to improved management and outcomes for individuals affected by these rare metabolic disorders. © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2024.
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