Dataset Information
The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.
Ontology highlight
ABSTRACT: 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 samples. 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.
SUBMITTER: Alansari A
PROVIDER: S-EPMC3836638 | biostudies-literature | 2013 Nov
REPOSITORIES: biostudies-literature
Publications
The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.
Sultan Qaboos University medical journal 20131108 4
<h4>Objectives</h4>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 mutatio ...[more]
