Auditory and vestibular phenotypes associated with GATA3 mutation

Abstract

Objective: To report the auditory and vestibular phenotypes of patients with GATA3 mutation.

Study design: Case series of 6 patients.

Setting: Tertiary referral center.

Patients: All patients had the classic triad of GATA3 deficiency: hypoparathyroidism, hearing loss, and renal dysplasia. Patients (29-60 yr old; mean age, 42.5 yr; 3 male and 3 female subjects) were confirmed to have heterozygous mutations involving GATA3 by Sanger sequencing.

Interventions: Behavioral audiometry, distortion product otoacoustic emissions (DPOAEs), and auditory brainstem responses (ABRs) were used to assess hearing. Rotational vestibular testing was used to assess vestibular function.

Results: All patients with GATA3 mutation presented with hearing loss during childhood. The mean 3-frequency (0.5/1/2 kHz) pure tone average was 67 dB HL (range, 50-83 dB HL; SD, 9.3). The average speech discrimination score was 73% (range, 36%-100%; SD, 15.9). DPOAEs were absent in all patients. ABRs were remarkably robust and provided no evidence of retrocochlear dysfunction. Some patients complained of dizziness, but rotary chair testing was normal across participants for whom testing occurred.

Conclusion: Patients with GATA3 mutation present with early-onset sensorineural hearing loss (SNHL). DPOAEs were absent, supporting outer hair cell dysfunction, whereas ABRs were present and robust. Rotational vestibular testing revealed no evidence of abnormal horizontal semicircular canal function.

Figures

Figure 1

Pure tone audiograms in patients with GATA3 mutation. The right ear thresholds are shown in red (circles), and the left ear thresholds are shown in blue (crosses). There were no clinically significant air-bone gaps (bone conduction thresholds not shown).

Figure 2

ABR recordings from the left ear of patient 2 at 95dB and 0dBnHL. The 95dBnHL ABR was tested twice for confirmation. ABR was stimulated using broadband clicks.