Fig. 5

Pedigree analysis of c.3614_3618dupCTGGC(p.F1207Lfs*100) in LTBP2. Sanger sequencing identified a heterozygous c.3614_3618dupCTGGC (p.F1207Lfs*100) mutation in the LTBP2 gene of the proband, his father and the brother, but not his mother. The mutation is in exon 24 of LTBP2 gene. The red arrows indicate the start point of the mutation. Duplication of CTGGC at position 3614 may result in a phenylalanine-to-leucine substitution at phenylalanine-1207, followed by a stop codon at position + 99