Fig. 1
From: A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV
Clinical features and Family pedigree of the patient. (a) The iris heterochromia in both eyes of the patient, which are blue. (b) The pedigree indicates that Family II-1 had a spontaneous heterozygous variant (SOX10:c.452_456dup), which is marked black. No variants were found in any other members of the family. (c) and (d) is the clinical audiology examination of the patient. (c) ASSR (auditory steady-state responses) of the right ear: 90 dB and 100 dB at 250 and 500Â Hz; ASSR of the left ear: 80 dB and 100 dB at 250 and 500Â Hz; the remaining frequencies showed no response. (d) present brainstem auditory evoked potential. The patient exhibit severe hearing impairment (no identifiable wave at 96 dB nHL and 90 dB nHL in pure-tone audiogram; no detection of binaural sound emission in brainstem auditory evoked potential graph)