Background. Hereditary hearing impairment is a heterogeneous sensory defect with approximately two-thirds of all cases being nonsyndromic. Only two loci (DFNA1 and DFNA6/14/38) are associated with low frequency sensorineural nonsyndromic hearing impairment. DFNA6 was mapped to chromosome 4p16. Recessive mutations in the WFS1 gene are responsible for Wolfram syndrome; missense mutations inherited as an autosomal dominant result in low frequency sensorineural hearing impairment (LFSNHI). Patients and methods. In this study we analyzed the phenotype of a large Hungarian family with LFSNHI and linkage to DFNA6. The family contains 14 affected persons. Results and conclusion. In general, these patients show a postlingual, sensorineural, bilateral, symmetric, nonsyndromic low frequency hearing impairment with a slow progression. This impairment is accompanied by normal vision and normal vestibular responses.
|Translated title of the contribution||Phenotypic characterization of a DFNA6 family showing low-frequency sensorineural hearing impairment|
|Number of pages||5|
|Publication status||Published - Feb 1 2004|
- Low frequency heriditary impairment
- WFS1 phenotype
ASJC Scopus subject areas