A novel mutation in in a Chinese family with X-linked non-syndromic hearing loss.

OBJECTIVE

Based on the clinical manifestations of a hearing loss patient, the gene was tested for diagnosis of etiology.

METHODS

A comprehensive physical examination was performed on the proband to exclude abnormalities of other organs, and detailed audiological testing and temporal bone CT scan were also performed. Genomic DNA was extracted using the proband's peripheral blood leukocytes. Polymerase chain reactions (PCR) were performed in the coding sequence of the gene. Direct DNA sequencing was subsequently applied to screen the entire coding region of the gene.

RESULTS

The proband had severe sensorineural hearing loss. Temporal CT showed bilateral cochlear incomplete partition, vestibule dysplasia, internal auditory canal fundus expansion, and cochlear interlink with the internal auditory canal fundus. A novel mutation (c.530C > A (p.S177X)) in the gene was found in this patient, creating an new stop codon and was predicted to result in a truncated protein lacking normal transcription factor function.

CONCLUSION

Through analysis of the gene and clinical manifestations in the patient, we conclude that a novel mutation may have resulted in a premature stop codon, contributing to the mutation of gene.