Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel

Background:Hearing loss (HL) is one of the most common and genetically heterogeneous sensory disorders in humans. Genetic causes underlie 50-60% of all HL and the majority of these cases exhibit an autosomal recessive model of inheritance. Methods:In our study, we used our targeted custom MiamiOtoGenes panel of 180 HL-associated genes to screen 23 unrelated consanguineous Iranian families with at least two affected children to identify potential causal variants for HL. Results:We identified pathogenic variants in seven genes (MYO7A, CDH23, GIPC3, USH1C,CAPB2, LOXHD1,andSTRC) in nine unrelated families with varying HL profiles. These include five reported and four novel mutations. Conclusion:For small consanguineous families that were unsuitable for conventional linkage analysis the employment of the MiamiOtoGenes panel helped identify the genetic cause of HL in a cost-effective and timely manner. This rapid methodology provides for diagnoses of a significant fraction of HL patients, and identifies those who will need more extensive genetic analyses such as whole exome/genome sequencing.