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. 2016 Jun 16;99(1):195–201. doi: 10.1016/j.ajhg.2016.05.012

Figure 1.

Figure 1

Autosomal-Dominant Oligodontia and Identification of the WNT10B Mutation

(A) Front views and panoramic radiographs of dentitions of three affected individuals (II-1, III-1, and III-2 in C). Missing teeth are denoted by asterisks.

(B) Schematic analysis shows the positions of missing teeth in each of the affected individuals. Missing teeth are denoted by asterisks.

(C) The ZZYWL-2 pedigree. Filled circles and squares represent affected female and male family members, respectively. Subjects I-1, I-2, II-3, II-4, and II-5 were not available for clinical evaluation or DNA analysis. WES and Sanger sequencing were performed for five family members (II-1, II-2, III-1, III-2, and III-3).

(D) Representative Sanger chromatograms show the heterozygous missense mutation c.632G>A, resulting in the p.Arg211Gln substitution.

(E) All four mutations and the rare variant c.849C>A (p.Ile283Ile) detected in the present study affect the middle region (amino acids 190–284) of WNT10B.