Identification of a novel deafness gene: functional studies of candidate genes to DFNA58 locus

Through CNV analysis of data from exome sequencing, MLPA (multiplex ligation-dependent probe amplification) and RT-qPCR, we revealed the gene responsible for DFNA58 HL: 20 affected family members inherited a duplication including two entire genes, CNRIP1 and PLEK, and exon 1 from PPP3R1. Overexpression of CNRIP1 because of this rare genomic duplication was dectected in all duplication carriers tested but not in noncarriers.