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

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...

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Detalles Bibliográficos
Autores principales: Menezes, Juliane, Ventura, Célia, Costa, João Matos, Parreira, Elsa, Romão, Luísa, Gonçalves, João
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715601/
https://www.ncbi.nlm.nih.gov/pubmed/29225857
http://dx.doi.org/10.1002/ccr3.1226
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author Menezes, Juliane
Ventura, Célia
Costa, João Matos
Parreira, Elsa
Romão, Luísa
Gonçalves, João
author_facet Menezes, Juliane
Ventura, Célia
Costa, João Matos
Parreira, Elsa
Romão, Luísa
Gonçalves, João
author_sort Menezes, Juliane
collection PubMed
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.
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spelling pubmed-57156012017-12-08 PROS1 novel splice‐site variant decreases protein S expression in patients from two families with thrombotic disease Menezes, Juliane Ventura, Célia Costa, João Matos Parreira, Elsa Romão, Luísa Gonçalves, João Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-11-03 /pmc/articles/PMC5715601/ /pubmed/29225857 http://dx.doi.org/10.1002/ccr3.1226 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Menezes, Juliane
Ventura, Célia
Costa, João Matos
Parreira, Elsa
Romão, Luísa
Gonçalves, João
PROS1 novel splice‐site variant decreases protein S expression in patients from two families with thrombotic disease
title PROS1 novel splice‐site variant decreases protein S expression in patients from two families with thrombotic disease
title_full PROS1 novel splice‐site variant decreases protein S expression in patients from two families with thrombotic disease
title_fullStr PROS1 novel splice‐site variant decreases protein S expression in patients from two families with thrombotic disease
title_full_unstemmed PROS1 novel splice‐site variant decreases protein S expression in patients from two families with thrombotic disease
title_short PROS1 novel splice‐site variant decreases protein S expression in patients from two families with thrombotic disease
title_sort pros1 novel splice‐site variant decreases protein s expression in patients from two families with thrombotic disease
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715601/
https://www.ncbi.nlm.nih.gov/pubmed/29225857
http://dx.doi.org/10.1002/ccr3.1226
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