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Sensitivity of transferrin isoform analysis for PMM2-CDG.

Patrica L Hall1, Kris Liedke1, Coleman Turgeon1

  • 1Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America.

Molecular Genetics and Metabolism
|August 31, 2024
PubMed
Summary

Transferrin isoform analysis shows 94% sensitivity for PMM2-CDG, a common congenital disorder of glycosylation. However, certain variants can lead to false positives, indicating a key limitation of this diagnostic test.

Keywords:
Biochemical testingCarbohydrate deficient transferrinCongenital disorders of glycosylationPMM2-CDGTest performance

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Area of Science:

  • Biochemistry
  • Clinical Diagnostics
  • Genetics

Background:

  • Transferrin isoform analysis is a standard laboratory method for diagnosing congenital disorders of glycosylation (CDG).
  • Limited data exist on the empirical sensitivity of this test for specific CDG types.
  • PMM2-CDG is the most prevalent form of CDG.

Purpose of the Study:

  • To evaluate the sensitivity of transferrin isoform analysis for PMM2-CDG.
  • To identify potential limitations of transferrin testing in CDG diagnosis.
  • To assess the test's utility for PMM2 genotypes of unknown significance.

Main Methods:

  • Retrospective analysis of ten years of transferrin testing data.
  • Focus on transferrin testing for type I profiles.
  • Evaluation of test sensitivity specifically for PMM2-CDG.

Main Results:

  • The study achieved 94% overall test sensitivity for PMM2-CDG.
  • Two recurrent variants were identified as being enriched in false-positive cases.
  • This highlights a significant limitation of transferrin isoform analysis.

Conclusions:

  • Transferrin isotype analysis is clinically valid as a screening tool for protein N-linked glycosylation disorders.
  • The test serves as a functional assay for PMM2 genotypes with uncertain significance.
  • Awareness of specific variants causing false positives is crucial for accurate diagnosis.