Molecular approach of auditory neuropathy

Revista Brasileira de Otorrinolaringologia

Silva, Magali Aparecida Orate Menezes da¹ 

[1] Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, Brazil

关键词: Deafness;    Genes;    Molecular biology;    Mutation.;   

DOI  :  10.1016/j.bjorl.2015.03.005

学科分类：医学（综合）

来源: Associacao Brasileira de Otorrinolaringologia e Cirurgia Cervicofacial

【 摘 要 】

INTRODUCTION:Mutations in the otoferlin gene are responsible for auditory neuropathy.OBJECTIVE:To investigate the prevalence of mutations in the mutations in the otoferlin gene in patients with and without auditory neuropathy.METHODS:This original cross-sectional case study evaluated 16 index cases with auditory neuropathy, 13 patients with sensorineural hearing loss, and 20 normal-hearing subjects. DNA was extracted from peripheral blood leukocytes, and the mutations in the otoferlin gene sites were amplified by polymerase chain reaction/restriction fragment length polymorphism.RESULTS:The 16 index cases included nine (56%) females and seven (44%) males. The 13 deaf patients comprised seven (54%) males and six (46%) females. Among the 20 normal-hearing subjects, 13 (65%) were males and seven were (35%) females. Thirteen (81%) index cases had wild-type genotype (AA) and three (19%) had the heterozygous AG genotype for IVS8-2A-G (intron 8) mutation. The 5473C-G (exon 44) mutation was found in a heterozygous state (CG) in seven (44%) index cases and nine (56%) had the wild-type allele (CC). Of these mutants, two (25%) were compound heterozygotes for the mutations found in intron 8 and exon 44. All patients with sensorineural hearing loss and normal-hearing individuals did not have mutations (100%).CONCLUSION:There are differences at the molecular level in patients with and without auditory neuropathy.

【 授权许可】

CC BY