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Screening for OST deficiencies in unsolved CDG-I patients

Wendy Vleugels1, Els Schollen, François Foulquier

  • 1Laboratory for Molecular Diagnosis, Center for Human Genetics, University of Leuven, B-3000 Leuven, Belgium.

Biochemical and Biophysical Research Communications
|October 20, 2009
PubMed

Insights

Researchers investigated Congenital Disorders of Glycosylation (CDG) and identified a potential cause for unexplained cases. A mutation in the RPN2 gene, part of the oligosaccharyltransferase complex, was found in one patient with unexplained hypoglycosylation.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Congenital Disorders of Glycosylation (CDG) are inherited defects in glycosylation.
  • 14 CDG type I (CDG-I) defects affecting oligosaccharide precursor assembly are known.
  • An increasing number of CDG-I patients (CDG-Ix) show protein hypoglycosylation without precursor assembly defects.

Purpose of the Study:

  • To investigate if oligosaccharyltransferase (OST) complex deficiency causes hypoglycosylation in CDG-Ix patients.
  • To screen OST complex subunits in CDG-Ix patients with normal precursor structures.

Main Methods:

  • Screening of OST complex subunits in 27 CDG-Ix patients.
  • Analysis of lipid-linked oligosaccharide structure and level.
  • Genetic analysis for mutations in OST subunits.

Main Results:

  • One patient with unexplained hypoglycosylation was identified.
  • The patient had a homozygous missense mutation (c.1121G>A; p.G374D) in the RPN2 subunit of the OST complex.
  • The mutation's pathogenic nature requires further validation due to OST defect complexities.

Conclusions:

  • A potential link between RPN2 mutations and CDG-Ix is suggested.
  • This finding highlights the OST complex as a potential target for diagnosing unexplained CDG.
  • Further research is needed to confirm the pathogenicity of the identified RPN2 mutation.

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