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

oleh: Omid Daneshjoo, Leila B. Salehi, Antonio Pizzuti, Giuseppe Novelli, Federica Sangiuolo

Format: Article
Diterbitkan: Wiley 2020-08-01

Deskripsi

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.