Fig. 1.

Domains of the TECTA and genotype-phenotype correlation of mutations. Pathogenic and possibly pathogenic variants found in this study are shown at the top of the scheme and the novel variants are highlighted in bold. Under the scheme of the domains, reported genotype-phenotype correlations for DFNA8/12 and DFNB21 are shown by bold lines with arrows for established phenotypes and a dotted line with arrows for proposed phenotypes. The triangles indicate the positions of the VUS found in this study. ENT, entactin-G1-like domain; ZA, zonadhesin-like domain; C, von Willebrand factor C domain; vWFD, von Willebrand factor D domain; T, trypsin inhibitor-like domain; ZP, zona pellucida domain; SNHL, sensorineural hearing loss