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Further characterization of the DFNA1 audiovestibular phenotype
A K Lalwani1, R K Jackler, R W Sweetow
1Department of Otolaryngology-Head and Neck Surgery, University of California, San Francisco 94143-0526, USA. lalwani@itsa.ucsf.edu
Archives of Otolaryngology--Head & Neck Surgery
|June 25, 1998
Summary
A mutation in the diaphanous gene causes hereditary hearing loss. Early symptoms include low-frequency hearing loss and endolymphatic hydrops, progressing to severe impairment.
Area of Science:
- Genetics
- Otolaryngology
- Molecular Biology
Background:
- Autosomal dominant, nonsyndromic, hereditary hearing impairment identified in a Costa Rican kindred.
- Mutation in the human homolog of the Drosophila diaphanous gene identified as the cause.
Observation:
- Comprehensive audiovestibular evaluation and temporal bone CT performed on affected individuals.
- Phenotypic characterization of DFNA1 hearing loss.
Findings:
- Early-onset mild, low-frequency hearing loss with endolymphatic hydrops in a child.
- Severe to profound bilateral sensorineural hearing impairment in adults.
- Normal vestibular function and temporal bone structures observed.
Implications:
- Suggests a link between diaphanous gene mutations, early hearing loss, and endolymphatic hydrops.
- Understanding the diaphanous gene's role may elucidate mechanisms of endolymphatic hydrops.