Non-Syndromic Hereditary Hearing Loss (NSHHL) is the most common congenital sensorineural disorder with a reported frequency of 1/500 live births. It is char- acterised by a high genetic heterogeneity (approx. 115 genes and 170 loci so far identified) and current genetic tests fail to provide a diagnosis for a majority of cases, suggesting that many novel HL genes and muta- tions need to be identified [1]. In this light, the large genetic heterogeneity of the disease can be overcome using innovative technologies such as next generation sequencing techniques including Whole Exome Sequencing (WES).
