FBN1 and Marfan syndrome: In the present study, a novel FBN1 intronic indel variant, c.3464-5_3464-4delGAinsAG, was identified in a 6-year-old boy with MFS through exome sequencing (ES) analysis, and co-segregated with bilateral lens dislocation, aortic sinus dilatation, and minor skeletal involvement.