Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss.

CONCLUSION

Novel ATP6V1B1 mutations were found in a patient with distal renal tubular acidosis (dRTA), hearing loss (HL), and enlargement of the vestibular aqueduct (EVA). The deterioration of HL and vertiginous attacks may be associated with the disruption of the endolymph pH homeostasis.

OBJECTIVES

To study the audiovestibular functions and to identify the causative gene.

METHODS

This study enrolled a Japanese family, where the proband showed type 1 dRTA, early onset HL, and bilateral EVA. A deterioration of HL occurred several times in both ears. Vertiginous attacks were always associated with a deterioration of HL. Audiovestibular examinations included distortion product otoacoustic emissions (DPOAEs), auditory brainstem responses (ABRs), caloric testing, and vestibular evoked myogenic potentials (VEMPs). Direct sequencing was utilized to screen for ATP6V1B1, SLC26A4, and GJB2 mutations.

RESULTS

The findings of DPOAEs and ABRs indicated cochlear HL. The vestibular function was thought to be mildly impaired according to the caloric responses and VEMP findings. Two novel ATP6V1B1 mutations of a heterozygous 15 base-pair deletion (c.756_770del) in exon 7 and a heterozygous 1 base-pair insertion (c.1242_1243insC) in exon 12 were detected in a compound heterozygous state. No mutation was identified in either SLC26A4 or GJB2.