Hereditary protein C deficiency with recurrent thrombosis: identification of a missense mutation (C6218T)

Protein C is the central component of a major anti-thrombotic regulatory system and individuals with hereditary protein C deficiency (PCD) tend to have an increased risk of thromboembolism. During the last several years, mutations causing PCD have been identified in Western countries and in Japanese...

Full description

Saved in:
Bibliographic Details
Published in:Journal of Korean medical science 1998-04, Vol.13 (2), p.186-190
Main Authors: Song, K S, Park, Y S, Choi, C R, Kim, H K, Park, Q, Kim, H S
Format: Article
Language:English
Subjects:
Adult
Cysteine - genetics
Female
Genetic Diseases, Inborn
Humans
Male
Pedigree
Point Mutation
Protein C - genetics
Protein C Deficiency
Recurrence
Threonine - genetics
Thrombosis - etiology
Thrombosis - genetics
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Protein C is the central component of a major anti-thrombotic regulatory system and individuals with hereditary protein C deficiency (PCD) tend to have an increased risk of thromboembolism. During the last several years, mutations causing PCD have been identified in Western countries and in Japanese. In the present study, we report a case of hereditary PCD with a missense mutation (C6218T) in a 44 year old female with recurrent pulmonary thromboembolism. The protein C activity (35%) and antigen (58%) levels in this patient were decreased. Furthermore, we have identified the same molecular defect and PCD in other asymptomatic family members including proband's mother and two daughters and one son. To our knowledge, this is the first case of hereditary PCD with identified genetic defect in the Korean population, which may be one of hot spots for mutation in the protein C gene.
ISSN:1011-8934
1598-6357
DOI:10.3346/jkms.1998.13.2.186