PJVK and deafness: Targeted high-throughput exome sequencing (hear panel: Table 1) on patient DNA samples (ARNSHI) in which no variants were found in GJB2 and LRTOMT, showed, after the filtering procedure, a new variant of the PJVK gene NM_001042702.5 (PJVK): c.550-6A > G (Chr2(GRCh37): g.179323231A > G) identified in a 16-year-old boy suffering from prelingual deafness.