title: DFNA5, a gene involved in hearing loss and cancer: a review.
abstract: OBJECTIVE
  The DFNA5 gene was identified in 1998 as a gene that causes an autosomal dominant form of hearing impairment. Five different DFNA5 mutations have been found; each results in skipping of exon 8 at the messenger RNA level. This finding indicates that DFNA5-associated hearing loss is attributable to a highly specific gain-of-function mutation. Interestingly, later reports revealed that DFNA5 also plays a role in tumor biology.
  
  
  METHODS
  Recent data have shed more light on the biological function of DFNA5. Through a literature search, the current knowledge of this gene is reviewed.
  
  
  RESULTS
  DFNA5 is the first gene for monogenic deafness that is known to involve apoptosis as a disease mechanism--a mechanism that was shown to be involved in frequent types of hearing loss caused by age, noise, or drugs. In line with its apoptosis-inducing properties, DFNA5 is a tumor suppressor gene with an important role in major types of tumors.
  
  
  CONCLUSIONS
  DFNA5 is a tumor suppressor gene that is involved in apoptosis pathways and as such performs a basic role in cell survival. In view of the known role of apoptosis in several forms of hearing loss, DFNA5 may be a player in the underlying disease mechanisms.
authors.affiliation: Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
authors.forename: Ken Op
authors.initials: KO
authors.lastname: de Beeck
authors.forename: Lut
authors.initials: L
authors.lastname: Van Laer
authors.forename: Guy
authors.initials: G
authors.lastname: Van Camp
mesh_terms: D000818:Animals; D017209:Apoptosis / Q000235:genetics; D002470:Cell Survival / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D020868:Gene Silencing / Q000502:physiology; D016147:Genes, Tumor Suppressor / Q000502:physiology; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D018613:Microscopy, Confocal; D009369:Neoplasms / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D011960:Receptors, Estrogen / Q000235:genetics*; D000094524:Gasdermins
chemical_list: D009419:Nerve Tissue Proteins; D011960:Receptors, Estrogen; C111432:GSDME protein, human; D000094524:Gasdermins; C519847:PJVK protein, human