Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey

被引:8
作者
Tarkan, O. [1 ]
Sari, P. [1 ]
Demirhan, O. [2 ]
Kiroglu, M. [1 ]
Tuncer, U. [1 ]
Surmelioglu, O. [1 ]
Ozdemir, S. [1 ]
Yilmaz, M. B. [2 ]
Kara, K. [1 ]
机构
[1] Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey
[2] Cukurova Univ, Dept Med Biol & Genet, Fac Med, TR-01330 Adana, Turkey
关键词
Connexins; Hearing Loss; Cochlear Implants; Humans; GJB2; Protein; Human; GJB6; GJB2; CONNEXIN-26; 35DELG MUTATION; CARRIER FREQUENCY; GENE-MUTATIONS; GAP-JUNCTION; DEAFNESS; POPULATION; PREVALENCE; FAMILIES; DEL(GJB6-D13S1830);
D O I
10.1017/S0022215112002587
中图分类号
R76 [耳鼻咽喉科学];
学科分类号
100213 ;
摘要
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.
引用
收藏
页码:33 / 37
页数:5
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