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
Descripción
Sumario: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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