Molecular approach of auditory neuropathy

• Autor(a) principal: Silva,Magali Aparecida Orate Menezes da
• Data de Publicação: 2015
• Outros Autores: Piatto,Vânia Belintani, Maniglia,Jose Victor
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Brazilian Journal of Otorhinolaryngology
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942015000300321
• topic: Deafness; Genes; Molecular biology; Mutation

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.