FIGURE 2.

Variant location and gene structure. All variants associated with tooth agenesis or ectodermal dysplasia (with and without tooth agenesis, black) and variants associated with hearing loss (red) were mapped to their location within the NM_144991.2 TSPEAR transcript to provide an indication of exons or protein motifs that may be intolerant to variation. Newly reported variants are shown above the diagram, while previously reported variants are shown below the diagram. Large gene deletions are not shown. The c.1726_1728delGTCinsTT variant (p.Val576Leufs*38) in exon 10 has been separately reported in association with both hearing loss and ectodermal dysplasia. TSPEAR contains a laminin G structural domain and seven epilepsy‐associated repeat (EAR) domains which may mediate protein–protein interactions; both domains are indicated below the gene diagram. EAR, epilepsy‐associated repeat; del, deletion; dup, duplication [Color figure can be viewed at wileyonlinelibrary.com]