DFNA5: hearing impairment exon instead of hearing impairment gene?

DFNA5: hearing impairment exon instead of hearing impairment gene?

BACKGROUND Three mutations in the DFNA5 gene have been described in three families with autosomal dominant non-syndromic hearing impairment. Although these mutations are different at the genomic DNA level, they all lead to skipping of exon 8 at the mRNA level. We hypothesise that hearing impairment associated with DFNA5 is caused by a highly unusual mechanism, in which skipping of one specific ...

HEARING IMPAIRMENT CAUSED BY WAR

120 cases of Iranian soldiers complaining of hearing loss, were studied over a period of three years at the Ghaem Medical Center in Mashad,Iran. There was adequate information in III cases that their engagement in different types of explosions had caused their hearing impairment. The following aspects were evaluated: 1- Categorization of their hearing impairment. 2- The otoscopic findings...

A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment.

A mutation in human DFNA5 is associated with autosomal dominant nonsyndromic hearing impairment. The function of DFNA5 protein remains unknown and no experimental model has been described so far. Here we describe fission yeast Schizosaccharomyces pombe as a model organism for studying the function of heterologously expressed DFNA5. We have expressed wild-type as well as mutant DFNA5 alleles und...

Treatment of Hearing Impairment

Peri-Operative Hearing Impairment

Peri-operative hearing impairment is a poorly reported morbidity following any type of anaesthesia. We report a case where the patient developed temporary hearing impairment after a gynaecological surgery. This recovered in a couple of week time. The causes of such hearing impairment in various types of anaesthesia are discussed.