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

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

Abstract 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 iden...

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Main Authors: Omid Daneshjoo, Leila B. Salehi, Antonio Pizzuti, Giuseppe Novelli, Federica Sangiuolo
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Clinical Case Reports
Subjects:
FBN1
Marfan syndrome
mutation
NGS
Online Access:https://doi.org/10.1002/ccr3.2881
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spelling doaj-7f104b6bfbe44f189a9e417a701c29cf2020-11-25T03:49:55ZengWileyClinical Case Reports2050-09042020-08-01881445145110.1002/ccr3.2881An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 geneOmid Daneshjoo0Leila B. Salehi1Antonio Pizzuti2Giuseppe Novelli3Federica Sangiuolo4Medical Genetics Group Department of Experimental Medicine “Sapienza’’ University of Rome Rome ItalyU.O.C. of Medical Genetics Policlinic of Tor Vergata Rome ItalyMedical Genetics Group Department of Experimental Medicine “Sapienza’’ University of Rome Rome ItalyDepartment of Biomedicine and Prevention University of Rome “Tor Vergata’’ ItalyDepartment of Biomedicine and Prevention University of Rome “Tor Vergata’’ ItalyAbstract 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.https://doi.org/10.1002/ccr3.2881FBN1Marfan syndromemutationNGS
collection DOAJ
language English
format Article
sources DOAJ
author Omid Daneshjoo
Leila B. Salehi
Antonio Pizzuti
Giuseppe Novelli
Federica Sangiuolo
spellingShingle Omid Daneshjoo
Leila B. Salehi
Antonio Pizzuti
Giuseppe Novelli
Federica Sangiuolo
An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
Clinical Case Reports
FBN1
Marfan syndrome
mutation
NGS
author_facet Omid Daneshjoo
Leila B. Salehi
Antonio Pizzuti
Giuseppe Novelli
Federica Sangiuolo
author_sort Omid Daneshjoo
title 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_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_sort enormous italian pedigree of marfan syndrome with a novel mutation in the fbn1 gene
publisher Wiley
series Clinical Case Reports
issn 2050-0904
publishDate 2020-08-01
description Abstract 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.
topic FBN1
Marfan syndrome
mutation
NGS
url https://doi.org/10.1002/ccr3.2881
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