An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same NM_000138.4:c.6872‐1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Further studies on such a large pedigree could identify othe...

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Detalles Bibliográficos
Autores principales: Daneshjoo, Omid, Salehi, Leila B., Pizzuti, Antonio, Novelli, Giuseppe, Sangiuolo, Federica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455403/
https://www.ncbi.nlm.nih.gov/pubmed/32884772
http://dx.doi.org/10.1002/ccr3.2881
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author Daneshjoo, Omid
Salehi, Leila B.
Pizzuti, Antonio
Novelli, Giuseppe
Sangiuolo, Federica
author_facet Daneshjoo, Omid
Salehi, Leila B.
Pizzuti, Antonio
Novelli, Giuseppe
Sangiuolo, Federica
author_sort Daneshjoo, Omid
collection PubMed
description We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same NM_000138.4:c.6872‐1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Further studies on such a large pedigree could identify other genetic factors that influence MFS manifestation.
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spelling pubmed-74554032020-09-02 An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene Daneshjoo, Omid Salehi, Leila B. Pizzuti, Antonio Novelli, Giuseppe Sangiuolo, Federica Clin Case Rep Case Reports We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same NM_000138.4:c.6872‐1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Further studies on such a large pedigree could identify other genetic factors that influence MFS manifestation. John Wiley and Sons Inc. 2020-06-02 /pmc/articles/PMC7455403/ /pubmed/32884772 http://dx.doi.org/10.1002/ccr3.2881 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the 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
Daneshjoo, Omid
Salehi, Leila B.
Pizzuti, Antonio
Novelli, Giuseppe
Sangiuolo, Federica
An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
title An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
title_full An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
title_fullStr An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
title_full_unstemmed An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
title_short An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
title_sort enormous italian pedigree of marfan syndrome with a novel mutation in the fbn1 gene
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455403/
https://www.ncbi.nlm.nih.gov/pubmed/32884772
http://dx.doi.org/10.1002/ccr3.2881
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