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PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease.

ABSTRACT: Our results prove that c.1871-14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA-based studies in order to evaluate variants pathogenicity. We evidence the increased risk of venous thromboembolism associated with this cryptic splice-site variant if present in patients with PS deficiency.

SUBMITTER: Menezes J

PROVIDER: S-EPMC5715601 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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<i>PROS1</i> novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease.

Menezes Juliane J Ventura Célia C Costa João Matos JM Parreira Elsa E Romão Luísa L Gonçalves João J

Clinical case reports 20171103 12

Our results prove that c.1871-14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA-based studies in order to evaluate variants pathogenicity. We evidence the increased risk of venous thromboembolism associated with this cryptic splice-site variant if present in patients with PS deficiency. ...[more]

PMID: 29225857

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