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[Type I hereditary protein C deficiency due to C5498T mutation in protein C gene]

Rong-fu Zhou1, Hong-li Wang, Qi-hua Fu

  • 1Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.

Zhonghua Yi Xue Za Zhi
|December 3, 2003
PubMed

Insights

A novel C5498T heterozygous mutation in the protein C gene was identified in a Chinese family with type I hereditary protein C deficiency. This genetic alteration leads to a critical amino acid substitution, causing the deficiency.

Area of Science:

  • Genetics
  • Molecular Biology
  • Hematology

Context:

  • Hereditary protein C deficiency is a rare genetic disorder affecting blood coagulation.
  • Type I deficiency is characterized by reduced levels of both protein C activity and antigen.
  • Identifying specific gene mutations is crucial for understanding disease mechanisms and genetic counseling.

Purpose:

  • To identify the causative gene mutation in a Chinese family with type I hereditary protein C deficiency.
  • To analyze the protein C gene and its regulatory regions for mutations.
  • To correlate the identified mutation with the clinical phenotype.

Summary:

  • Plasma protein C activity and antigen levels were measured in 12 family members.
  • Direct sequencing of the protein C gene identified a C5498T heterozygous mutation in exon 3 in affected individuals.
  • This mutation results in an Arg to Trp substitution at amino acid 15 and was confirmed by restriction enzyme analysis.

Impact:

  • This study reports the C5498T heterozygous mutation in the protein C gene for the first time in China.
  • The identified mutation is directly linked to type I hereditary protein C deficiency.
  • Findings contribute to the genetic understanding of protein C deficiency and may aid in diagnosis and management.
Abstract

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