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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families

Fig. 3

Pedigree, clinical phenotypes and mutation analysis in family ZSJ. a Audiograms of both ears from the proband exhibited profound sensorineural hearing impairment; b Temporal bone CT images of the proband demonstrating dilation of the lateral end of the IAM and a deficit in the basal turn of the cochlea in the right ear (arrow) in addition to dilation of the lateral end of the IAM and an incompletely developed cochlea in the left ear (arrow); c Wild-type sequence of POU3F4, including site 669; d A hemizygotic c.669 T > A mutation was detected in the affected boy; e Pedigree of family ZSJ; f Stop codon caused by changes in the DNA sequence; g Molecular modeling of wild-type and mutant POU3F4 proteins. The c.669 T > A mutant creates a new stop codon and is predicted to result in a truncated protein lacking normal POU3F4 transcription factor function

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