ArticleThe open neurology journal2016
Relationship Between Patients with Clinical Auditory Neuropathy Spectrum Disorder and Mutations in Gjb2 Gene.
Article in The open neurology journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 5 citations in OpenAlex.
- Genetic etiology of non-syndromic hearing loss in Latin America.Human genetics · 2022Review
- GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder.Genetics and molecular biologyArticle
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Authors and funding
5 authors.
Funding
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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.
objectiveTo analyze the pattern of clinical relationship between patients with clinical diagnosis with auditory neuropathy spectrum disorder and GJB2 gene. PATIENTS AND
methodsStudy 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.
resultsBiallelic 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.
conclusionMutations 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 (
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