Auditory and vestibular phenotypes associated with GATA3 mutation

Wade W Chien, Jennifer W. Leiding, Amy P. Hsu, Christopher Zalewski, Kelly King, Steven M. Holland, Carmen Brewer

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)577-581
Number of pages5
JournalOtology and Neurotology
Volume35
Issue number4
DOIs
StatePublished - 2014

Fingerprint

Phenotype
Mutation
Brain Stem Auditory Evoked Potentials
Hearing Loss
Outer Auditory Hair Cells
Semicircular Canals
Hypoparathyroidism
Audiometry
Speech Perception
Sensorineural Hearing Loss
Dizziness
Tertiary Care Centers
Hearing
Kidney

Keywords

  • GATA3
  • Hearing loss
  • Hypoparathyroidism
  • Hypothyroidism, deafness, and renal dysplasia syndrome
  • Renal dysplasia
  • Sensorineural hearing loss

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Clinical Neurology
  • Sensory Systems
  • Medicine(all)

Cite this

Chien, W. W., Leiding, J. W., Hsu, A. P., Zalewski, C., King, K., Holland, S. M., & Brewer, C. (2014). Auditory and vestibular phenotypes associated with GATA3 mutation. Otology and Neurotology, 35(4), 577-581. https://doi.org/10.1097/MAO.0000000000000238

Auditory and vestibular phenotypes associated with GATA3 mutation. / Chien, Wade W; Leiding, Jennifer W.; Hsu, Amy P.; Zalewski, Christopher; King, Kelly; Holland, Steven M.; Brewer, Carmen.

In: Otology and Neurotology, Vol. 35, No. 4, 2014, p. 577-581.

Research output: Contribution to journalArticle

Chien, WW, Leiding, JW, Hsu, AP, Zalewski, C, King, K, Holland, SM & Brewer, C 2014, 'Auditory and vestibular phenotypes associated with GATA3 mutation', Otology and Neurotology, vol. 35, no. 4, pp. 577-581. https://doi.org/10.1097/MAO.0000000000000238
Chien, Wade W ; Leiding, Jennifer W. ; Hsu, Amy P. ; Zalewski, Christopher ; King, Kelly ; Holland, Steven M. ; Brewer, Carmen. / Auditory and vestibular phenotypes associated with GATA3 mutation. In: Otology and Neurotology. 2014 ; Vol. 35, No. 4. pp. 577-581.
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