Prevalence of POU4F3 and SLC17A8 Mutations
DFNA are characterized as progressive bilateral deafness. To date, 21 genes and 57 loci are involved in these dominant deafness, with an unknown prevalence.A 22nd gene responsible of the disease has been found. This SLC17A8 gene encodes for the VGLUT3 protein which is specifically expressed in sensorial cells of the audition. VGlut3-/- mice present a deep deafness due to a deficiency of neurotransmitter release, although sensorial cells and neurons are intact. This kind of deafness is an ideal candidate for a genetic therapy because of the cells integrity.Mutations of SLC17A8 gene have been found in 2 american families that suffer from progressive deafness.The study aims to look for european families from the Mediterranean basin, which carry SLC17A8 gene mutations, and may benefit in a medium-term from genetic therapy. The study will allow to identify the prevalence of the SLC17A8 gene mutations in patients suffering from deafness. This phenotype also corresponds to DFNA15 deafness caused by POU4F3 : mutations of this gene will be screened as well.
|Study Design:||Time Perspective: Prospective|
|Official Title:||Prevalence of POU4F3 (DFNA15) and SLC17A8 (DFNA25) Genes Mutations in Dominant Autosomal Deafness and Phenotypic Characterization of Carrier Patients.|
- SLC17A8 et POU4F3 mutations genes analysis [ Time Frame: up to 1 year ] [ Designated as safety issue: No ]The mutations will be screened by direct sequencing
- Phenotypic characterization of the carrier patients [ Time Frame: up to 1 year ] [ Designated as safety issue: No ]The phenotypic characterization will be assessed by usual tests for genetic deafness (audiometry, electro-physiological explorations)
|Study Start Date:||March 2011|
|Estimated Study Completion Date:||February 2014|
|Estimated Primary Completion Date:||February 2014 (Final data collection date for primary outcome measure)|
Genetic: SLC17A8 et POU4F3 mutations genes analysis
SLC17A8 et POU4F3 mutations genes analysis on blood samples of deafness patients.
|Contact: Michel Mondain, PU-PHfirstname.lastname@example.org|
|Montpellier, France, 34090|
|Contact: Michel Mondain, PU-PH email@example.com|