We collected 15 related family members from a Chinese 4-generation pedigree with Marfan syndrome.

There were three different phenotypes, including ectopia lentis, aortic dissection and unaffected.

We identified the pathogenic mutation for the phenotypes presented in this family by the exome and Sanger sequencing.

We firstly reported that a same FBN1 mutation was detected simultaneously in three different phenotypes within one family.

The unaffected girl with FBN1 mutation may presumably represent a rare case of nonpenetrance.