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Whole PROC Gene Sequencing to Explain Genetically Unresolved Protein C Deficiencies.

Laetitia Mauge1,2,3, Carla Rial1,2, Philippe De Mazancourt1,4,5

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Next-generation sequencing (NGS) of the entire PROC gene identified causal variants in 21% of patients with unexplained protein C deficiency, including deep intronic and structural variations.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Hematology

Background:

  • A proportion of protein C deficiencies remain genetically unresolved despite exon-focused genetic testing.
  • Deep intronic or structural variations within the PROC gene are potential causes for these unresolved cases.

Purpose of the Study:

  • To identify the causal genetic variations in unrelated patients with protein C deficiency who had no identified genetic cause after conventional testing.

Main Methods:

  • Whole PROC gene sequencing using next-generation sequencing (NGS) was performed on probands with unexplained protein C deficiency.
  • Candidate variants were assessed using in silico analysis (MaxEntScan, SpliceAI) and in vitro splicing assays.

Main Results:

  • NGS identified causal variants in 8 out of 38 (21%) previously unsolved protein C deficiency patients.
  • Identified variants included a deletion, a balanced inversion, and four deep intronic variants with demonstrated pathogenic impact on splicing.

Conclusions:

  • Whole PROC gene sequencing via NGS is valuable for diagnosing previously unexplained protein C deficiencies.
  • This approach successfully identified genetic causes, including deep intronic and structural variations, that were missed by conventional methods.