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A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T)

M Linnebank1, R Junker, D G Nabavi

  • 1Klinik und Poliklinik für Kinderheilkunde, Universitaetsklinikum Münster, Germany. michael.linnebank@ukb.uni-bonn.de

Journal of Inherited Metabolic Disease
|October 2, 2003
PubMed

Insights

Hereditary homocystinuria, caused by cystathionine beta-synthase (CBS) deficiency, can lead to isolated thrombosis. The common CBS 1278T mutation was found in patients with stroke and sinus thrombosis, suggesting homocystinuria is underdiagnosed.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Neurology

Background:

  • Hereditary homocystinuria, a rare metabolic disorder due to cystathionine beta-synthase (CBS) deficiency, is often linked to thromboembolism.
  • Specific CBS mutations, particularly those affecting the C-terminal region, can cause isolated thrombosis without other typical homocystinuria symptoms.

Purpose of the Study:

  • To investigate the prevalence of the common CBS 1278T mutation in patients experiencing thrombotic events like stroke and sinus thrombosis.
  • To determine if this mutation, or others, can lead to isolated thrombophilia.

Main Methods:

  • DNA samples from 225 stroke patients and 46 sinus thrombosis patients were screened.
  • The screening specifically targeted the CBS 1278T mutation, a common cause of homocystinuria.

Main Results:

  • One homozygous patient for the CBS 1278T mutation was identified in both the stroke and sinus thrombosis groups.
  • These findings indicate that the CBS 1278T mutation, similar to C-terminal mutations, can result in isolated thrombophilic events.

Conclusions:

  • The presence of the CBS 1278T mutation in patients with isolated thrombosis supports the hypothesis that homocystinuria is an underdiagnosed condition.
  • Screening for CBS mutations should be considered in patients presenting with unexplained thrombotic events.

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