Figure 2. Pedigrees and chromatograms of two individuals with MECD. A: Pedigree of family of proband 1 and chromatogram demonstrating a portion of KRT3 exon 1 in the proband. The chromatogram demonstrates a single heterozygous nucleotide change, c.250C>T, in exon 1 of KRT3. B: Pedigree of family of proband 2 and chromatograms demonstrating a portion of KRT12 exon 6 in the proband and his unaffected parents. The chromatograms reveal a heterozygous insertion/deletion variant (c.1288_1293delCGCCGCinsAGCCCT)
in proband 2 (II:1) that is not present in the proband’s father (I:1) or mother (I:2). Filled symbols represent affected individuals;
unfilled symbols represent unaffected individuals; question marks indicate individuals of unknown affected status; symbols
with a diagonal line represent deceased individuals; arrowhead designates the proband. Below each symbol in which screening
of KRT3 and KRT12 was performed, the results are given as wild-type (+) or the identified mutation is shown.