TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad.

Hector Guillen-AhlersChristy B ErbeFrédéric D ChevalierMaria J MontoyaKip D ZimmermanCarl D LangefeldMichael OlivierChristina L Runge

Published in: Molecular genetics & genomic medicine (2018)

This study represents the first confirmation of the rs35725509 variant in an independent family as a likely cause for the complex hearing loss phenotype (SNHL and ANSD) observed in this family dyad.

Keyphrases

hearing loss
spectrum disorder