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. 2017 Jul 6;5(5):531–552. doi: 10.1002/mgg3.312

Figure 6.

Figure 6

Biallelic PEX26 mutations cause deaf‐blindness with enamel dysplasia (Heimler syndrome). (A) Pedigrees of the two patients with PEX26 mutations. (B) Scheme of the PEX26 gene and localization of mutations. (C) Partial alignment of PEX26/Pex26 peptide sequences from various species, indicating high evolutionary conservation of the mutated residues. (D) Severe enamel dysplasia of permanent teeth of patient 135 at 117/12 years of age. (E) X‐ray of patient 135 showing preeruptive crown resorption in the upper left first molar (red arrow) and a local enlargement of the gingival tissue (blue line) at 1310/12 years of age.