Anam Nayab1, Qamre Alam2, Othman R Alzahrani3, Ranjha Khan4, Sara Sarfaraz5, Alrayan Abass Albaz6, Misbahuddin M Rafeeq7, Ziaullah M Sain8, Ahmed Waqas9, Muhammad Umair10. 1. Hefei National Laboratory for Physical Science at the Micro Scale, School of Life Sciences, University of Science and Technology of China, 230027, Hefei, Anhui, China. 2. Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. 3. Department of Biology, Faculty of Sciences, University of Tabuk, Tabuk, Kingdom of Saudi Arabia. Genome and Biotechnology Unit, Faculty of Sciences, University of Tabuk, Tabuk, Saudi Arabia. 4. The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at the Microscale, School of Life Sciences, University of Science and Technology of China, Hefei, 230027, Anhui, China. 5. Department of Biological Sciences, International Islamic University, Islamabad, Pakistan. 6. Department of Oncology and Human Metabolism, The Medical School, University of Sheffield, Beech Hill Road, Sheffield, S10 2RX, United Kingdom. 7. Department of Pharmacology, Faculty of Medicine, Rabigh, King Abduaziz University, Jeddah, 21589, Saudi Arabia. 8. Department of Microbiology, Faculty of Medicine, Rabigh, King Abduaziz University, Jeddah, 21589, Saudi Arabia. 9. Department Zoology, Division of Science and Technology, University of Education Lahore, Multan Campus, Punjab, Pakistan. Electronic address: ahmed.waqas@ue.edu.pk.com. 10. Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. Electronic address: khugoo4u@yahoo.com.
Abstract
BACKGROUND: Phosphoglycerate mutase (PGAM) deficiency is associated with a rare glycogen storage disease (glycogenosis type X) in humans caused by pathogenic variants in the PGAM2 gene. Several genes causing autosomal forms of glycogen storage disease (GSD) have been identified, involved in various forms of neuromuscular anomalies. METHODS: Targeted whole exome sequencing (WES) was performed on the DNA of single affected individual (IV-1) followed by Sanger sequencing confirmation of the identified variant in all available members of the family. RESULTS: In the present study, the affected individual, presenting mild features of glycogen storage disease type X. Targeted exome sequencing revealed a biallelic frameshift variant (c.687dupC; p. Met230Hisfs*6) in the PGAM2 gene located on chromosome 7p13. CONCLUSION: In short, we reported a novel homozygous frameshift variant as a cause of glycogen storage disease type X from Pakistani population. The work presented here proves significance of targeted WES in accurate diagnosis of known complex genetic disorders.
BACKGROUND: Phosphoglycerate mutase (PGAM) deficiency is associated with a rare glycogen storage disease (glycogenosis type X) in humans caused by pathogenic variants in the PGAM2 gene. Several genes causing autosomal forms of glycogen storage disease (GSD) have been identified, involved in various forms of neuromuscular anomalies. METHODS: Targeted whole exome sequencing (WES) was performed on the DNA of single affected individual (IV-1) followed by Sanger sequencing confirmation of the identified variant in all available members of the family. RESULTS: In the present study, the affected individual, presenting mild features of glycogen storage disease type X. Targeted exome sequencing revealed a biallelic frameshift variant (c.687dupC; p. Met230Hisfs*6) in the PGAM2 gene located on chromosome 7p13. CONCLUSION: In short, we reported a novel homozygous frameshift variant as a cause of glycogen storage disease type X from Pakistani population. The work presented here proves significance of targeted WES in accurate diagnosis of known complex genetic disorders.
Authors: Ahmed Waqas; Anam Nayab; Shabnam Shaheen; Safdar Abbas; Muhammad Latif; Misbahuddin M Rafeeq; Ibtesam S Al-Dhuayan; Amany I Alqosaibi; Mashael M Alnamshan; Ziaullah M Sain; Alaa Hamed Habib; Qamre Alam; Muhammad Umair; Muhammad Arif Nadeem Saqib Journal: Front Genet Date: 2022-04-28 Impact factor: 4.772