title: Auditory and vestibular phenotypes associated with GATA3 mutation.
abstract: OBJECTIVE
  To report the auditory and vestibular phenotypes of patients with GATA3 mutation.
  
  
  METHODS
  Case series of 6 patients.
  
  
  METHODS
  Tertiary referral center.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: *National Institute on Deafness and Other Communication Disorders, and †National Institute on Allergy and Infectious Diseases, National Institutes of Health, Bethesda; and ‡Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins School of Medicine, Baltimore, Maryland, U.S.A.
authors.forename: Wade Wei-De
authors.initials: WW
authors.lastname: Chien
authors.forename: Jennifer W
authors.initials: JW
authors.lastname: Leiding
authors.forename: Amy P
authors.initials: AP
authors.lastname: Hsu
authors.forename: Christopher
authors.initials: C
authors.lastname: Zalewski
authors.forename: Kelly
authors.initials: K
authors.lastname: King
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.forename: Carmen
authors.initials: C
authors.lastname: Brewer
mesh_terms: D000328:Adult; D017668:Age of Onset; D001299:Audiometry; D004244:Dizziness / Q000209:etiology; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005260:Female; D050990:GATA3 Transcription Factor / Q000172:deficiency* / Q000235:genetics*; D018072:Hair Cells, Auditory, Outer / Q000473:pathology; D006309:Hearing / Q000502:physiology*; D006310:Hearing Aids; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006801:Humans; D007037:Hypothyroidism / Q000150:complications / Q000235:genetics; D007668:Kidney / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D017084:Otoacoustic Emissions, Spontaneous; D010641:Phenotype; D012027:Reflex, Vestibulo-Ocular; D012399:Rotation; D013063:Speech Discrimination Tests; D013067:Speech Perception; D014722:Vestibule, Labyrinth / Q000033:anatomy & histology*
chemical_list: D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human