Related Experiment Video

Updated: Jun 7, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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A novel SERPINC1 c.119G>A (p.Cys40Tyr) mutation with variable clinical expression in an Indian family

Kranti Patil1, Asha Shah2, Gurpreet Saini1

  • 1Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
|November 11, 2024
PubMed

Insights

A novel SERPINC1 mutation causes severe hereditary antithrombin deficiency, leading to early-onset pulmonary thromboembolism in two brothers. Their father, with the same mutation, remained asymptomatic, suggesting other genetic factors may influence disease severity.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Hereditary antithrombin (AT) deficiency, caused by SERPINC1 mutations, is a severe form of thrombophilia.
  • Understanding genetic variants is crucial for predicting thrombotic risk.

Purpose of the Study:

  • To report a novel SERPINC1 mutation (c.119 G>A, p.Cys40Tyr) in a family with hereditary AT deficiency.
  • To investigate the genetic basis of varying thrombotic phenotypes within the family.

Main Methods:

  • Clinical exome sequencing was performed on three family members.
  • In-silico prediction tools (PolyPhen-2, SIFT, MutationTaster) assessed the novel variant's pathogenicity.
  • Analysis included SERPINC1 and common thrombophilia-associated genes like SERPINE1.

Main Results:

  • A novel SERPINC1 mutation (c.119 G>A, p.Cys40Tyr) was identified in all three affected family members.
  • Two brothers presented with acute pulmonary thromboembolism (PTE) at ages 18 and 21.
  • The asymptomatic father (58 years) carried the same SERPINC1 mutation, but was heterozygous for the SERPINE1 -844 G>A variant, unlike his homozygous sons.

Conclusions:

  • The novel SERPINC1 mutation is associated with hereditary AT deficiency and a high risk of early-onset PTE.
  • The differing clinical presentations suggest that other genetic factors, such as the SERPINE1 variant, may modulate thrombotic risk and disease severity.

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