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Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

G Matthijs1, E Schollen, C Bjursell

  • 1Center for Human Genetics, University of Leuven, Leuven, Belgium. gert.matthijs@med.kuleuven.ac.be

Human Mutation
|November 3, 2000
PubMed

Insights

This study compiles data on 58 distinct PMM2 gene mutations found in 249 patients with CDG-Ia, representing a significant update on PMM2 mutations. The comprehensive database aims to aid researchers in understanding this genetic disorder.

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • The PMM2 gene, responsible for CDG-Ia, was identified in 1997.
  • Numerous PMM2 mutations have been reported in scientific literature and case studies.
  • The increasing number of molecularly characterized cases necessitates a consolidated data repository.

Purpose of the Study:

  • To systematically collect and list all known PMM2 mutations.
  • To create a comprehensive database of PMM2 mutations from multiple diagnostic laboratories.
  • To facilitate research on PMM2-related disorders by providing an updated mutation catalog.

Main Methods:

  • Data collation from six research and diagnostic laboratories.
  • Systematic search for PMM2 gene mutations.
  • Collection of demographic data and mortality information for affected patients.

Main Results:

  • A total of 58 different PMM2 mutations were identified.
  • These mutations were found in 249 patients diagnosed with CDG-Ia.
  • Data were collected from patients across 23 countries, with demographic and mortality information also registered.

Conclusions:

  • This molecular update provides a comprehensive catalog of PMM2 mutations.
  • The compiled data serves as a valuable resource for researchers studying CDG-Ia.
  • An online database is established to continuously update PMM2 mutation information.

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