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hearing impairment is a highly prevalent disorder in humans, with significant hearing loss present in ∼278 million people worldwide (7). Each year, approximately two in every 1,000 U.S. children are born either deaf or hard-of-hearing (4). Without appropriate intervention at an early age, undetected or untreated hearing loss results in delays in language development and subsequent issues with communication skills, reading abilities, and social-emotional development. For those born with hearing loss, it is estimated that >50% of cases have genetic causes, and most are inherited as an autosomal recessive trait. One of the implicated genes is SLC26A4, and as described by Dai et al. (2), mutations in this gene cause Pendred syndrome and nonsynonymous deafness.

The rocky road toward clinical genetic testing: insights into the physio-genetic basis of hearing loss