An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene.
FBN1
Marfan syndrome
NGS
mutation
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
received:
31
10
2019
revised:
26
03
2020
accepted:
28
03
2020
entrez:
5
9
2020
pubmed:
5
9
2020
medline:
5
9
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32884772
doi: 10.1002/ccr3.2881
pii: CCR32881
pmc: PMC7455403
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1445-1451Informations de copyright
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
In this study, the authors have no conflict of interest.
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