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
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.
To analyze the pattern of clinical relationship
between patients with clinical diagnosis with auditory neuropathy spectrum disorder and GJB2 gene.
Patients and Methods:
- 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.
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.
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).
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