ArticleOtology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology2014
Auditory and vestibular phenotypes associated with GATA3 mutation.
Article in Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00404560 (Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility), which is not on this map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility
Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Genetic Findings in Seven Cochlear Implanted Patients with Severe-to-Profound Hearing Loss.Genes · 2026Article
- Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.Journal of clinical medicine · 2024Article
- Normative data for ages 18-45 for ocular motor and vestibular testing using eye tracking.Laryngoscope investigative otolaryngology · 2021Article
- Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.Molecular genetics & genomic medicine · 2020Article
- Genetic Disorders of Parathyroid Development and Function.Endocrinology and metabolism clinics of North America · 2018Review
- HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.BMC medical genetics · 2017Article
- Dynamic Expression of Sox2, Gata3, and Prox1 during Primary Auditory Neuron Development in the Mammalian Cochlea.PloS one · 2017Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveTo report the auditory and vestibular phenotypes of patients with GATA3 mutation. STUDY
designCase series of 6 patients.
settingTertiary 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.
interventionsBehavioral 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.
resultsAll 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.
conclusionPatients 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.
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