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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...

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Detalles Bibliográficos
Autores principales: Song, K. S., Park, Y. S., Choi, C. R., Kim, H. K., Park, Q., Kim, H. S.
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 1998
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054489/
https://www.ncbi.nlm.nih.gov/pubmed/9610620
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author Song, K. S.
Park, Y. S.
Choi, C. R.
Kim, H. K.
Park, Q.
Kim, H. S.
author_facet Song, K. S.
Park, Y. S.
Choi, C. R.
Kim, H. K.
Park, Q.
Kim, H. S.
author_sort Song, K. S.
collection PubMed
description 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.
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spelling pubmed-30544892011-03-15 Hereditary protein C deficiency with recurrent thrombosis: identification of a missense mutation (C6218T). Song, K. S. Park, Y. S. Choi, C. R. Kim, H. K. Park, Q. Kim, H. S. J Korean Med Sci Research Article 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. Korean Academy of Medical Sciences 1998-04 /pmc/articles/PMC3054489/ /pubmed/9610620 Text en
spellingShingle Research Article
Song, K. S.
Park, Y. S.
Choi, C. R.
Kim, H. K.
Park, Q.
Kim, H. S.
Hereditary protein C deficiency with recurrent thrombosis: identification of a missense mutation (C6218T).
title Hereditary protein C deficiency with recurrent thrombosis: identification of a missense mutation (C6218T).
title_full Hereditary protein C deficiency with recurrent thrombosis: identification of a missense mutation (C6218T).
title_fullStr Hereditary protein C deficiency with recurrent thrombosis: identification of a missense mutation (C6218T).
title_full_unstemmed Hereditary protein C deficiency with recurrent thrombosis: identification of a missense mutation (C6218T).
title_short Hereditary protein C deficiency with recurrent thrombosis: identification of a missense mutation (C6218T).
title_sort hereditary protein c deficiency with recurrent thrombosis: identification of a missense mutation (c6218t).
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054489/
https://www.ncbi.nlm.nih.gov/pubmed/9610620
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