Clinical Phenotypic Characteristics of SC26A4

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-05-15

Study Completion Date

2023-08-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Hearing Loss Pendred Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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Patients with enlarged vestibular aqueduct

This study will analyze the SLC26A4 mutation, and audiological and imaging characteristics of PS/NSEVA to summarize the clinical manifestations of PS/NSEVA patients. The study also will analyze the effects of SLC26A4 mutation and inner ear imaging on the degree of hearing loss in PS/NSEVA patients to provide predictive measures for the genetic diagnosis and clinical phenotype of PS/NSEVA. Finally, the effects of sex and age on the degree of hearing loss in patients with PS/NSEVA will be analyzed to provide insight on PS/NSEVA pathogenesis.

No interventions assigned to this group

Eligibility Criteria

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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

Eligible Sex

ALL

Accepts Healthy Volunteers

No