TCOF1 and deafness: Five heterozygous variants were submitted by targeted NGS of 406 known deafness genes in this patient: a genomic deletion spanning coding exon 2-6 in EYA1 (GRCh38/h38: chr8: 71321733-71356548) (Figure 2(a)), c.1082G>A (p.Arg361Gln) in EYA1 (NM_000503.6), c.571T>C (p.Phe191Leu) in GJB2 (NM_004004.6), c.2575C>G (p.Gln859Glu) in TCOF1 (NM_001135243), and c.685T>C (p.Tyr229His) in KARS (NM_001130089) (Figure 3).