Fig. 6

Pedigree analysis of c.2819G > A (p.C940Y) in LTBP2. Sanger sequencing identified a heterozygous c.2819G > A (p.C940Y) mutation in LTBP2 gene of the proband and the mother, but not the father and brother. The mutation is in exon 18 of LTBP2 gene. The red arrow indicates the mutation site. The G-to-A mutation at position 2819 may result in a cysteine-to-tyrosine substitution at position 940 in LTBP2 protein