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

Abstract

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.

Keywords

• FBN1
• Marfan syndrome
• mutation
• NGS