The identification of pompe disease mutations in archival tissues and development of a rapid molecular-based test

Aliya Alansari, Samira Al-Rawahi, Taher Ba-Omar, Mariam Al-Nabhani, Anand Date

Research output: Contribution to journalArticle

1 Citation (Scopus)


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.

Original languageEnglish
Pages (from-to)502-509
Number of pages8
JournalSultan Qaboos University Medical Journal
Issue number4
Publication statusPublished - Nov 2013



  • Genotyping techniques
  • Glucan 1,4-alpha-Glucosidase
  • Mutations
  • Oman
  • Pompe disease
  • Tissue

ASJC Scopus subject areas

  • Medicine(all)

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