Fig. 1: Clinical features and pedigree of families with tooth agenesis caused by LRP6 mutations.

a–d Panoramic radiograph, tooth agenesis schematic, and intraoral photographs of #704 proband (IV:1) with 15 congenital permanent tooth agenesis. e Panoramic radiograph and tooth agenesis schematic of #704 proband’s mother (III:3) with 5 congenital permanent tooth agenesis. f, g Left-hand photograph and X-ray of III:3 showed unilateral preaxial polydactyly (arrow). h Panoramic radiograph and tooth agenesis schematic of #704 proband’s uncle (III:4) with 6 congenital permanent tooth agenesis. i Panoramic radiograph and tooth agenesis schematic of #704 proband’s grandfather (II:3) with congenital missing permanent teeth. j, k The hand photograph and X-ray of II:3 showed bilateral preaxial polydactyly (arrow). l, m Panoramic radiographs, and tooth agenesis schematics of #221 family, including the proband (II:1) with 16 congenital permanent tooth agenesis, and his mother (I:2) with 9 congenital permanent tooth agenesis. n Panoramic radiographs and tooth agenesis schematics of #227 II:1 (proband) with 16 congenital permanent tooth agenesis. Asterisks and solid squares indicate the missing permanent tooth position. The written informed consents for publication of their photos were obtained from all the participants. o–q Heterozygous LRP6 missense mutation (c.2840 T > C;p.Met947Thr), heterozygous LRP6 missense mutation (c.1154 G > C;p.Arg385Pro), and heterozygous LRP6 missense mutation (c.1406 C > T;p.Pro469Leu) were identified in families #704, #221, and #227, respectively. Max, maxillary; Mand, mandibular. Black arrowheads indicate the probands. NA, not available. Gray circles/squares represent patients with tooth agenesis. Gray circles/squares with black lines represent patients with tooth agenesis and preaxial polydactyly. White circles/squares represent normal relatives. White circles/squares with a long diagonal indicate deceased relatives.