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. 2019 Feb 19;98(5):541–548. doi: 10.1177/0022034518824571

Figure 4.

Figure 4.

Family 4. (A) Clinical photos of the proband (V:6) at age 13 y showing generalized heavy brown staining and hypomaturation amelogenesis imperfecta in the secondary dentition. (B) Pedigree of family 4. Asterisks (*) mark the 9 family members recruited for this study. The proband is indicated with an arrow. The double lines connecting the father (IV:3) and mother (IV:12) of the proband and his aunt (IV:8) and uncle (IV:9) indicate consanguinity. (C) The proband’s panoramic radiograph taken at age 13 y shows very little enamel contrasting with dentin. (D) Whole exome sequencing results showed no coverage for WDR72 for exons 3 through 13 in the proband (top). DNA sequence chromatogram of a polymerase chain reaction amplification product spanning the deletion demonstrated that the WDR72 deletion was g.35441_97578del62138 (bottom). All 3 affected recruited members of family 4 (V:4, V:6, V:8) were homozygous for this deletion.