Figure 2.

Pedigree, sequencing chromatogram, clinical photos, and panoramic radiograph of Family 2. (A) Pedigree of Family 2. The black filled symbol indicates the affected individual, and the proband is indicated by a black arrow. Plus signs above the symbols indicate participating individuals. (B) Sequencing chromatogram of the proband’s mother. Nucleotide sequences are shown above the chromatogram. The red arrow indicates the location of the mutation (NM_000089.4:c.1171G>A) (R: A or G). (C–E) Clinical photos of the proband at age 3 years and 10 months. (F) Panoramic radiograph of the proband at age 3 years and 10 months. (G–I) Clinical photos of the proband’s mother at age 32 years. Mild brown opalescent discoloration can be seen in the mandibular anterior teeth, but the maxillary anterior teeth are unremarkable. (J) Panoramic radiograph of the proband’s mother at age 32 years.