Clinical Phenotypic Characteristics of SC26A4

Clinical Phenotypic Characteristics of the Solute Carrier Family 26 Member 4 (SC26A4) Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA)

The presence or absence of SC26A4, whether combined with Mondini malformation, and patient age, are important factors affecting the degree of hearing loss in the Chinese population.

To summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutation and clinical phenotypic characteristics of Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA) patients and provide evidence supporting the clinical diagnosis and genetic counseling of patients with PS/NSEVA. A retrospective cohort study for the Chinese population is needed.

Inclusion Criteria:

1. Patients with Enlarged Vestibular Aqueduct;
2. Patients with hearing loss;
3. Patients with results of SLC26A4 sequencing;

Exclusion Criteria:

Subjects will be excluded from this study if any of the following are present:

1. Audiometric data is incomplete
2. Incomplete basic information
3. Patients who did not undergo HRCT