In the original family studied by Greene et al. (2001) and in an American family of German descent, Ruel et al. (2008) identified a heterozygous ala211-to-val (A211V) missense mutation in the SLC17A8 gene (607557.0001) segregating with autosomal dominant ... In the original family studied by Greene et al. (2001) and in an American family of German descent, Ruel et al. (2008) identified a heterozygous ala211-to-val (A211V) missense mutation in the SLC17A8 gene (607557.0001) segregating with autosomal dominant deafness and not present in 267 controls. Linkage disequilibrium analysis suggested that the families had a distant common ancestor. The alanine at position 211 is conserved in vesicular glutamate transporter-3, encoded by SLC17A8, across all species and in all human VGLUT subtypes, suggesting an important functional role.