WFS1 and Waardenburg syndrome type 1: Genetic testing confirmed a double heterozygous pathogenic variant of the WFS1 gene: a nonsense variant, c.387G>A, determining a stop codon, p.(Trp129*), and a missense variant, c.1675G>C, determining an amino acid change, p.(Ala559Pro), which were consistent with autosomal recessive WS1.