In summary, we identified a novel heterozygous mutation of SALL1 (ENST00000251020: c.1428_1429insT, p. K478QfsX38) and a new homozygous mutation of PTPRQ (ENST00000266688: c.1057_1057delC, p. L353SfsX8) in a Chinese family with TBS and nonsyndromic hearing loss. This evidence concerns the gene SALL1 and Townes-Brocks syndrome.