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

• Author(s): Menezes, J ; Ventura, C ; Costa, J ; Parreira, E ; Romão, L
• Date: 2017
• Persistent ID: http://hdl.handle.net/10400.10/1980
• Origin: Repositório do Hospital Prof. Doutor Fernando Fonseca
• Subject(s): Protein S deficiency; Thrombosis; Venous thromboembolism
• Document Type: Journal article
• Language: English
• Contributor(s): Unidade Local de Saúde Amadora / Sintra

Description

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.