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Molecular study in Brazilian cochlear implant recipients
- Source :
- American journal of medical genetics. Part A. (14)
- Publication Year :
- 2007
-
Abstract
- The most common form of non-syndromic autosomal recessive deafness (NSRD) is caused by mutations in the GJB2 gene. Recently, a deletion truncating the GJB6 gene, called del(GJB6-D13S1,830) has also been described normally accompanying mutations in another allele of the GJB2 gene. Among all the mutations described to date, 35delG in the GJB2 gene is the most common. Preliminary data suggest that pathologic changes due to GJB2 mutations do not affect the spiral ganglion cells, which are the site of stimulation of the cochlear implant. Besides, the survival of the spiral ganglion cells is believed to be an important determinant of the outcome after surgery. Therefore, we have studied 49 non-syndromic deaf patients with unknown etiologies in order to determine the prevalence of GJB2 and GJB6 gene mutations in patients undergoing cochlear implantation surgery. Also, the molecular studies were performed using polymerase chain reaction amplification and direct sequencing. As a result, we found 19 individuals with GJB2 mutation including one new mutation (K168R), one patient homozygous for the del(GJB6-D13S1,830). These results establish that genetic screening can provide an etiologic diagnosis, and may help with prognosis after cochlear implantation, as has been hypothesized in previous studies.
- Subjects :
- Hearing loss
medicine.medical_treatment
DNA Mutational Analysis
Gene mutation
medicine.disease_cause
Bioinformatics
Connexins
Gene Frequency
Cochlear implant
otorhinolaryngologic diseases
Genetics
medicine
Connexin 30
Humans
Genetic Testing
Allele
Hearing Loss
Allele frequency
Genetics (clinical)
Spiral ganglion
Mutation
biology
business.industry
Cochlear Implantation
Connexin 26
medicine.anatomical_structure
Cochlear Implants
biology.protein
sense organs
medicine.symptom
business
GJB6
Brazil
Subjects
Details
- ISSN :
- 15524825
- Issue :
- 14
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics. Part A
- Accession number :
- edsair.doi.dedup.....57a1a253b580ff91c5f26818d9a66376