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. 2022 Dec 22;24(1):209. doi: 10.3390/ijms24010209

Figure 3.

Figure 3

Genetic findings in a woman with PPCD and keratoconus and her healthy son. (A) Pedigree of the family, individual I:2 carries the loss-of-function (LoF) ZEB1 mutation: NM_030751.6:c.1A > C (p.Met1Leu). (B) NM_030751.6:c.1A > C (p.Met1Leu) was detected in the proband by exome sequencing from leucocyte-derived DNA (visualized in Integrative Genomics Viewer, aligned to Genome Reference Consortium Human Build 37). (C) Mutation confirmed by Sanger sequencing in proband (I:2) and segregation study in her son (II:1).