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.

SUBMITTER: Chien WW 

PROVIDER: S-EPMC4108448 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature