MedPath

Mutation screening of deafness genes on patients with idiopathic hearing impairment.

Not Applicable
Conditions
Idiopathic hearing loss
Registration Number
JPRN-UMIN000023299
Lead Sponsor
Tokyo Medical and Dental University
Brief Summary

We sampled DNA from a patient with IP-3 phenotype and parents, and analysed whole coding regions and multiple enhancer regions of POU3F4 by Sanger sequencing, resulting in no pathogenic variant detected.

Detailed Description

Not available

Recruitment & Eligibility

Status
Complete: follow-up complete
Sex
All
Target Recruitment
30
Inclusion Criteria

Not provided

Exclusion Criteria

1. no request for the test from patient or his family 2. gene candidate is unpredictable from clinical findings

Study & Design

Study Type
Observational
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Detection of causative deafness gene
Secondary Outcome Measures
NameTimeMethod
© Copyright 2025. All Rights Reserved by MedPath