Fig. 1

Pedigree, clinical phenotypes, and mutation analysis in family 1486. a Temporal bone computed tomography (CT) images of the proband of family 1486 demonstrating dilation of the lateral end of the internal acoustic meatus (IAM) and a malformed cochlea; the basal turn of the cochlea was incompletely separated from the IAM (arrow); b Pedigree of Family 1486 with multiple congenital profound sensorineural hearing impairment cases (Affected subjects are denoted in black. Arrow indicates the proband. Mutation carrier are denoted with dot within a symbol); c Wild-type sequence of POU3F4 including sites 927–929; d A heterozygous c.927delCTC mutation was found in the female carriers; e A hemizygotic c.927delCTC mutation was detected in the affected males; f Amino acid changes caused by changes in the DNA sequence. A three-nucleotide deletion (from position 927 to 929) in the coding region of POU3F4 results in the deletion of serine at position 310