Figure 4. Genetic analysis of TGFBI in the proband and her two sisters. Direct sequencing of genomic amplification products corresponding to exon 4 (upper panels) or exon 12 (lower panels) of TGFBI was performed for II-1, II-2, and II-3. A heterozygous CGC→CAC mutation was detected at codon 124 in II-1, II-2, and II-3. A heterozygous AAT→AGT mutation was detected at codon 544 in II-1 and II-3.