In this study, we performed exome sequencing on 71 families from a large cohort of Iranian hereditary hearing loss patients. For 70 out of 71 the GJB2 sequencing and targeted OtoSCOPE panel analysis were negative. We identified likely causal variants in 11 known deafness and eight novel candidate genes. Overall, we could resolve the underlying genetic cause for 28.1% of the previously unresolved families.

We sought to evaluate the outcome of patients with unknown etiologies of critical illnesses with the deployment of rapid whole exome sequencing (rWES). This study is the first of its kind 1) performed in a middle income country, 2) recruiting adult patients, 3) studying Thai ethnics, and 4) enrolling patients from several hospitals. This study suggests that use of rWES as a first-tier investigation tool can provide tremendous benefits in such patients across age groups in Thailand.