Fig. 1

Family pedigree and results of audiologic evaluation of the proband (III-1). a Pedigree and segregation analysis of c.712 C > T: p.Q238X mutation in the SALL4 gene. Sanger sequencing displayed that patient (III-1) is heterozygous and her healthy parents (II-4 and II-5) are normal for the identified mutation. b Audiograms of the affected proband which were obtained using pure tone audiometry with air conduction from frequencies 250 to 8000 Hz. c Patient's dysmorphic phenotypes. Left thumb aplasia, hypoplasia of right thumb, and mild syndactyly are evident