Download 13th International Conference on Cochlear Implants and Other

Survey
yes no Was this document useful for you?
   Thank you for your participation!

* Your assessment is very important for improving the work of artificial intelligence, which forms the content of this project

Document related concepts

Auditory system wikipedia, lookup

Audiology and hearing health professionals in developed and developing countries wikipedia, lookup

Earplug wikipedia, lookup

Olivocochlear system wikipedia, lookup

Dysprosody wikipedia, lookup

Sensorineural hearing loss wikipedia, lookup

Noise-induced hearing loss wikipedia, lookup

Hearing loss wikipedia, lookup

Speech perception wikipedia, lookup

Telecommunications relay service wikipedia, lookup

Transcript
S43-12
New mutations in the gene for otoferlin (OTOF) in Argentinean patients with cochlear implants and
auditory neuropathy
1
1
1
2
2
Barteik Eugenia M. , Reynoso R. , Mirta M. , Saviors M.I. , Romani C. , Curet C.
1,2
1
CEPIDEM - Molecular Genetics Unit . Medical Fac -UNC, Cordoba, Argentina, 2COAT and National University of Cordoba, ENT, Cordoba,
Argentina
Introduction: Neurosensorial Hearing loss Nonsyndromic autosomal recessive (NSSHL) is a heterogeneous
condition for which have been reported to date 40 142 loci and recessive genes. One of these genes, OTOF,
DFNB9 locus, encodes otoferlin, intracytoplasmatic binding protein calcium, which is involved in exocytosis
synaptic vesicles in the inner hair cells in the cochlea. OTOF mutations are the cause of hereditary Auditory
Neuropathy.
Material and methods: Thirty Argentinen families with NSSHL for the mutation p.Gln829X were studied. This
implies analyzing the 48 exons + UTRs (untranslation regions). These patients comprise the cohort of a
multicenter study by Spain, Colombia and Argentina.
Result: Only four of the thirty Argentine families, showed mutations in the gene OTOF. Three of them are
heterozygous compounds: two compound heterozygous for mutations
p.Gln829X/c.2905_2923delinsCTCCGAGCGCA and one compound for c.4227 +1 G>
T/c.2905_2923delinsCTCCGAGCGCA heterozygous. A family with three deaf children from the same cohort,
was homozygous for the mutation c.4227 +1 G> T/c.4227 +1 G> T.
The latter two (c.4227 +1 G> T / c.2905_2923delinsCTCCGAGCGCA), new pathogenic mutations were not
reported until now in the literature. Mutation c.4227 +1 G > T resulting from a change in the splicing site of
attachment of exon / intron 35, while the mutation is an insertion c.2905_2923delinsCTCCGAGCGCA deletion in
exon 25. Haplotype analysis for markers linked to the gene OTOF suggests a founder effect for the novel
mutation c.2905_2923delinsCTCCGAGCGCA
Five patients were cochlear implanted ,and 3 of them are brothers who inherited the new homozygous mutation
(c.4227 +1 G> T/c.4227 +1 G> T).
Conclusion: These results confirm that mutations in the gene OTOF correlated with non-syndromic, prelingual
and profound sensorineural deafness, and further suggest that these mutations are the major cause of hereditary
auditory neuropathy, so genetic diagnosis in these individuals should be directed to OTOF gene. In the
implanted patients were observed in audiological tests good hearing thresholds and moderate to good
performance in disyllabic and tri-syllabic words discrimination, in direct relation to the time of use of the device
and the quality of rehabilitation performed.
Keywords: Hearing loss; DFNB9; OTOF; otoferlin; Auditory Neuropathy CI cochlear implant.
681