Relationship Between Patients with Clinical Auditory Neuropathy Spectrum Disorder and Mutations in Gjb2 Gene



Guilherme M. de Carvalho1, *, Priscila Z. Ramos2, Arthur M. Castilho1, Alexandre C. Guimarães1, Edi L. Sartorato3
1 Otologist, Otology, Audiology and Implantable Ear Prostheses, Unicamp, Sao Paulo, Brazil
2 Human Molecular Genetics Laboratory, Molecular Biology and Genetic Engineering Center, CBMEG, Unicamp, Sao Paulo, Brazil
3 Molecular Biology and Genetic Engineering Center, CBMEG, Unicamp, Sao Paulo, Brazil


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© de Carvalho et al.; Licensee Bentham Open.

open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution-Non-Commercial 4.0 International Public License (CC BY-NC 4.0) (https://creativecommons.org/licenses/by-nc/4.0/legalcode), which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.

* Address correspondence to this author at the Otology, Audiology and Implantable Ear Prostheses, Ear, Nose, Throat and Head & Neck Surgery Department, P.O. BOX 6111, Postal Code: 13081-970, São Paulo, Brazil; Tel: +55 19 35217523; Fax: +55 19 35217563; E-mail: guimachadocarvalho@gmail.com


Abstract

The auditory neuropathy is a condition which there is a dyssynchrony in the nerve conduction of the auditory nerve fibers. There is no evidence about the relationship between patients with clinical auditory neuropathy spectrum disorder and mutations in GJB2 gene. There are only two studies about this topic in the medical literature. Connexin 26 (GJB2 gene) mutations are common causes of genetic deafness in many populations and we also being reported in subjects with auditory neuropathy.

Objective:

To analyze the pattern of clinical relationship between patients with clinical diagnosis with auditory neuropathy spectrum disorder and GJB2 gene.

Patients and Methods:

Study Design - Retrospective analysis and genetic evaluation. Setting - Tertiary referral center. Subjects - 40 patients with Auditory Neuropathy Spectrum Disorder. Intervention - Clinical information and genetic evaluation (GJB2 gene) were analyzed.

Results:

Biallelic mutations that accounted for hearing loss (HL) were found in three patients, both with c.35delG mutation in homozygous state. The splice site mutation IVS1+1G>A was detected in heterozygous state in one individual. However, since the second mutant allele was not identified, it was not possible to establish its correlation with the phenotype.

Conclusion:

Mutations in GJB2 gene mutations were found in 7.5% of the patients with ANSD. We found no relationship between patients with clinical auditory neuropathy spectrum disorder and mutations in GJB2 gene (p>0.05).

Keywords: GJB2, Auditory neuropathy spectrum disorder, Evoked auditory brainstem response, Hearing loss, Otoacoustic emissions.