الملخص
Objectives: Pompe disease (glycogen storage disease type II) is a rare autosomal recessive lysosomal storage disease that is caused by acid alpha-glucosidase deficiency. Early enzyme replacement therapy can benefit infants with the disease but the diagnosis is complicated by the rarity of the disease and the heterogeneity of the clinical manifestations. In this study, DNA extracted from archival postmortem formalin-fixed paraffin-embedded tissues was used to identify Pompe disease mutations in Oman and develop a rapid molecular-based test. Methods: Intronic primers were designed to amplify short fragments (193–454 base pairs [bp]) from coding exons (2–20) and screen for mutations using direct sequencing (DS). Results: Two mutations known to cause severe disease were identified in two infants. One was a coding mutation, c.2560C>T (p.Arg854X), and the second was found at a splice acceptor site, c.1327-2A>G. Polymerase chain reaction- and restriction fragment length polymorphism-based tests were designed for the rapid genotyping of the identified mutations. Conclusion: These tests can facilitate prenatal diagnosis and help in identifying carriers in families with the identified mutations.
بيانات النشر
- المعرّف الرقمي
- 10.18295/2075-0528.1518
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 13(4), 502-509
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Al Ansari, A., Al-Rawahi, S., Al-Nabhani, T., Mariam, & Date, A. (2025). The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test. Sultan Qaboos University Medical Journal, 13(4), 502-509. https://doi.org/10.18295/2075-0528.1518
MLA 9
Al Ansari, Aliya, et al. "The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test." Sultan Qaboos University Medical Journal, vol. 13, no. 4, 2025, pp. 502-509. https://doi.org/10.18295/2075-0528.1518.
شيكاغو (المؤلف–التاريخ)
Al Ansari, Aliya, Samira Al-Rawahi, Taher Al-Nabhani, Mariam, and Anand Date. 2025. "The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test." Sultan Qaboos University Medical Journal 13 (4): 502-509. https://doi.org/10.18295/2075-0528.1518.
هارفارد
Al Ansari, A., Al-Rawahi, S., Al-Nabhani, T., Mariam and Date, A. (2025) 'The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test', Sultan Qaboos University Medical Journal, 13(4), pp. 502-509. doi:10.18295/2075-0528.1518.
فانكوفر
Al Ansari A, Al-Rawahi S, Al-Nabhani T, Mariam, Date A. The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test. Sultan Qaboos University Medical Journal. 2025;13(4):502-509. doi:10.18295/2075-0528.1518
IEEE
A. Al Ansari, S. Al-Rawahi, T. Al-Nabhani, Mariam, and A. Date, "The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test," Sultan Qaboos University Medical Journal, vol. 13, no. 4, pp. 502-509, 2025, doi: 10.18295/2075-0528.1518.