Hearing loss is one of the most common human sensory defects, affecting approximately one out of 1000 children at birth. In more than half of the cases, the defect can be attributed to a genetic cause. In most of the cases (80%), hereditary hearing loss is categorized as non-syndromic, based on the absence of other symptoms. Isolated deafness forms that are transmitted in the recessive mode (DFNB) are the most frequent (85%) and the most severe. To date, few dozens of genes and gene loci have been implicated in DFNB.

DFNB67 is caused by mutation in the LHFPL5 gene. The specific role of the protein encoded by this gene is unknown. Researchers suggest that this protein is important for the normal function of the inner ear and the hearing process. LHFPL5 is expressed transiently in inner ear hair cell stereociliary bundles. This finding is suggestive that LHFPL5 is essential for normal function of the human cochlea.