SALL1 and deafness: The novel mutations (c.757 C > T p.Gln253* exon2) identified in this study were located in the hotspot mutation region of SALL1. The affected individuals in the first generation (the proband’s grandmother) exhibited deafness, while those in the second generation (the proband’s father) manifested polydactyly, deafness, and anal abnormalities.