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Molecular approach of auditory neuropathy.

Abstract：

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.

journal_name

Braz J Otorhinolaryngol

journal_title

Brazilian journal of otorhinolaryngology

authors

Silva MA,Piatto VB,Maniglia JV

doi

10.1016/j.bjorl.2015.03.005

subject

Has Abstract

pub_date

2015-05-01 00:00:00

pages

321-8

issue

3

eissn

1808-8694

issn

1808-8686

pii

S1808-8694(15)00039-7

journal_volume

81

pub_type

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