PTPRQ and Townes-Brocks syndrome: In this study, we identified a novel heterozygous mutation (ENST00000251020: c.1428_1429insT, p. K478QfsX38) of SALL1 and a new homozygous mutation (ENST00000266688: c.1057_1057delC, p. L353SfsX8) of PTPRQ in a Chinese family that included two TBS patients and another two individuals with hearing loss by whole-exome sequencing.