Molecular investigation in children candidates and submitted to cochlear implantation

Revista Brasileira de Otorrinolaringologia

Sartorato, Edi Lúcia¹  Silva, Rodrigo César e¹  Porto, Paulo R. Cantanhede¹  Christiani, Thalita Vitachi¹  Bernardes, Raquel¹  Bortoncello, Silvana¹  UNICAMP¹ 

关键词: connexin 26;    cochlear implants;    sensorineural hearing loss.;   

DOI  :  10.1590/S0034-72992006000300007

学科分类：医学（综合）

来源: Associacao Brasileira de Otorrinolaringologia e Cirurgia Cervicofacial

【 摘 要 】

AIM: recent progresses in molecular biology have been made in the diagnosis of sensorineural hearing loss. The high prevalence of a connexin 26 gene mutation, and its easy identification have made the diagnosis possible. The most frequent gene mutation is called 35delG. The purpose of this study was to evaluate the prevalence of 35delG mutation in children submitted to cochlear implantation who had severe and profound hearing loss previously diagnosed as idiopathic. METHOD: The study was done at the Cochlear Implantation Clinic of the Otolaryngology Department and at the Laboratório Genética Humana-CBMEG, UNICAMP-SP. 32 children with severe to profound sensorineural hearing loss were evaluated. The detection of the 35delG mutation was made by a allele -specific PCR, using primers and polymerase chain reaction. RESULTS: 69% had a normal exam, 12% were homozygous for the mutation, 19% of the cases were heterozygous. The 35delG mutation in heterozygousity is not a cause of hearing loss.CONCLUSION: The data confirm the high prevalence of the 35delG mutation in nonsyndromic bilateral profound sensorineural hearing loss. It was also possible to diagnose the cause of hearing loss as genetic in a significant percentage of patients. That stresses the importance of the molecular investigation in those cases formerly classified as idiopathic.

【 授权许可】

Unknown