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Related Experiment Video

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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

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Published on: September 9, 2012

SERPINC1 gene mutations in antithrombin deficiency.

René Mulder¹, F Nanne Croles^2,3, André B Mulder¹

¹Department of Laboratory Medicine, University Medical Centre Groningen, Groningen, the Netherlands.

British Journal of Haematology

|March 21, 2017

Summary

Most antithrombin deficiency cases stem from SERPINC1 gene mutations. This study identified 13 SERPINC1 mutations, including 5 novel ones, in 86% of families, deepening our understanding of this condition.

Keywords:

MLPA SERPINC1 antithrombin antithrombin deficiency sequencing

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Area of Science:

Genetics
Molecular Biology
Hematology

Background:

Antithrombin deficiency is often caused by mutations in the SERPINC1 gene.
Understanding the molecular basis is crucial for diagnosis and management.

Purpose of the Study:

To investigate the molecular background of antithrombin deficiency in a family cohort.
To identify novel SERPINC1 gene mutations and characterize their association with deficiency types.

Main Methods:

Family cohort study including 21 families.
Measurement of antithrombin activity, antigen levels, and heparin-antithrombin binding ratio.
Direct sequencing and MLPA analysis of the SERPINC1 gene.

Main Results:

Detrimental SERPINC1 mutations were found in 86% of families.
13 different SERPINC1 mutations were identified, with 5 being novel.
Mutations were associated with Type I (44%) and various Type II antithrombin deficiency subtypes.

Conclusions:

The study identified novel SERPINC1 mutations, expanding knowledge on antithrombin deficiency genetics.
Results highlight the importance of exploring genetic factors beyond the SERPINC1 gene for a comprehensive understanding.