ArticleEuropean archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery2014
Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil.
Article in European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Task force Guideline of Brazilian Society of Otology ‒ hearing loss in children - Part I ‒ Evaluation.Brazilian journal of otorhinolaryngologyGuideline
- Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles.Children (Basel, Switzerland) · 2024Article
- Genetic etiology of non-syndromic hearing loss in Latin America.Human genetics · 2022Review
- Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?Medicine · 2016Article
- Strategies for genetic study of hearing loss in the Brazilian northeastern region.International journal of molecular epidemiology and genetics · 2014Article
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6 authors at 1 institution in 1 country.
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Abstract
Mutations in the GJB2 gene, mainly 35delG, are responsible for most autosomal recessive inherited genetic hearing loss. The audiometric standard of these hearing losses remains inconsistent and other genes, such as GJB6, have been involved in association with GJB2. The objective of the study was to identify the deletions del(GJB6-D13S1830) and del(GJB6-D13S1854) in patients heterozygous for 35delG/GJB2 and analyze the phenotype they present. 101 patients with mild to profound degree of sensorineural hypoacusis were evaluated. The allele-specific PCR technique was used to identify 35delG. The del(GJB6-D13S1830) and del(GJB6-D13S1854) were identified through the PCR multiplex technique. 90% of the subjects presented a normal genotype for the analyzed mutations; 6.93% were shown to be heterozygous for 35delG/GJB2 and 1% presented compound heterozygosis GJB2/GJB6). The data found reinforced the hypothesis of an interaction of more than one gene as the cause of autosomal recessive genetic hearing loss and emphasized the importance of an early diagnosis for appropriate intervention.
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