FIGURE 1.

Representative oligodontia phenotypes for TSPEAR cohort subjects. Eighteen of the cohort subjects detailed in this article presented with tooth agenesis, which varied in severity from hypodontia to oligodontia, while a subset of study individuals presented with additional features such as taurodontism and conical teeth. (a) Orthopantomographs for cohort subject 15 show the absence of 19 permanent teeth and cone‐shaped canines that are characteristic of a subset of TSPEAR subjects detailed in this report. (b) The subject presented at 11 years of age and was born to unaffected, nonconsanguineous parents of Peruvian ancestry. Sequencing indicates that the subject is homozygous for c.1505delA (p.Lys502Argfs*67) variants. (c) The identified deletion is located in exon 9 within the epilepsy‐associated repeat (EAR) protein motif. (d) Orthopantomographs for cohort subject 17 show oligodontia with agenesis of 12, 13, 22, 23, 31, 32, 33, 41, 42, 43, as well as taurodontism of 16 and 26. (e) The subject was born to unaffected parents of European ancestry and presented for sequencing at age 9 with oligodontia, eczema, dry skin, and taurodontism. Sequencing identified two missense variants, c.1915G>A (p.Asp639Asn) and c.1331G>A (p.Arg444Gln). (f) These variants fall within exons 8 and 12, both of which form EAR protein motifs. (g) Orthopantomographs for cohort subject 18 show oligontia with agenesis of teeth 12, 13, 14, 17, 18, 22, 23, 24, 27, 28, 31, 32, 33, 34, 38, 41, 42, 43, 44, and 48. (h) The subject was born to unaffected parents of European ancestry and presented for sequencing at age 18 with tooth agenesis and scoliosis. Sequencing indicated the subject is heterozygous for two c.1633C>T and c.1899dup variants. (i) These variants are located within exons 10 and 12 and occur within EAR protein motifs. del, deletion; dup, duplication [Color figure can be viewed at wileyonlinelibrary.com]