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. 2019 Jul 18;18(3):2255–2261. doi: 10.3892/etm.2019.7789

Figure 1.

Figure 1.

Pedigree chart and sequence analysis of a novel mutation (c.1494delG, p.G499 Afs*20) in the FOXC1 gene. (A) In the pedigree chart, the proband (III:2) is indicated with an arrow. The filled symbols represent affected individuals, including the deceased grandfather of the proband. The grandfather was likely to be an ARS patient based on reported medical history and family genetics. (B) Sequences of DNA complementary chains of members of the family affected by ARS. DNA sequencing analysis of the FOXC1 gene was performed. The sequences derived from the affected patients II:2 and III:2 indicate a heterozygous mutation c.1494delG (red arrows), resulting in a p.G499Afs*20 frameshift mutation. FOXC1, forkhead box C1.