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http://purl.uniprot.org/citations/23171692http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23171692http://www.w3.org/2000/01/rdf-schema#comment"

Objective

Mutations in the genes for connexin 26 (GJB2) and connexin 30 (GJB6) play an important role in autosomal recessive, non-syndromic hearing loss. This study aimed to detect the 35delG and 167delT mutations of the GJB2 gene and the del(GJB6-D13S1830) mutation of the GJB6 gene in paediatric patients diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation in Mediterranean Turkey.

Materials and method

We included 94 children diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation. Blood samples were collected, DNA extracted and an enzyme-linked immunosorbent assay performed to enable molecular diagnosis of mutations.

Results

Of the 94 children analysed, the 35delG mutation was detected in 12 (12.7 per cent): 10 (83.3 per cent) were homozygous and 2 (16.7 per cent) heterozygous mutant. The 167delT and del(GJB6-D13S1830) mutations were not detected.

Conclusion

The GJB2-35delG mutation is a major cause of congenital, non-syndromic hearing loss in this study population."xsd:string
http://purl.uniprot.org/citations/23171692http://purl.org/dc/terms/identifier"doi:10.1017/s0022215112002587"xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/author"Demirhan O."xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/author"Yilmaz M.B."xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/author"Kara K."xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/author"Ozdemir S."xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/author"Tuncer U."xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/author"Kiroglu M."xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/author"Sari P."xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/author"Surmelioglu O."xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/author"Tarkan O."xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/name"J Laryngol Otol"xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/pages"33-37"xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/title"Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey."xsd:string
http://purl.uniprot.org/citations/23171692http://purl.uniprot.org/core/volume"127"xsd:string
http://purl.uniprot.org/citations/23171692http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/23171692
http://purl.uniprot.org/citations/23171692http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/23171692
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