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Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population
(MDPI, 2019)
Hearing loss (HL) is a common sensory disorder affecting over 5% of the global population. The etiology underlying HL includes congenital and acquired causes; genetic factors are the main cause in over 50% of congenital ...
Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss
(Elsevier MassonIssy les Moulineaux, 2014-03)
In 20% of cases, hereditary non-syndromic hearing loss has an autosomal dominant inheritance (ADNSHL). To date, more than 50 loci for ADNSHL have been mapped to different chromosomal regions. In order to verify whether ...
Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil
(2013)
Objective: There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology.
Methods: The present ...
GJB2 and GJB6 genetic variant curation in an Argentinean non-syndromic hearing-impaired cohort
(MDPI AG, 2020-10-21)
Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to ...
A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family
(Associação Brasileira de Divulgação Científica, 2009)
Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound ...
Single Nucleotide Polymorphisms Of The Gjb2 And Gjb6 Genes Are Associated With Autosomal Recessive Nonsyndromic Hearing Loss
(HINDAWI PUBLISHING CORPORATIONNEW YORK, 2015)
Perfil audiológico e genético de pacientes com perda auditiva sensorioneural não sindrônica atendidos no Hospital das Clínicas da Faculdade de Medicina de Botucatu-Universidade Estadual Paulista
(Universidade Estadual Paulista (Unesp), 2011-12-20)
A deficiência auditiva é o déficit sensorial mais comum e tem dentre as suas diferentes etiologias as alterações genéticas. Mutações na conexina 26 são comuns, e uma mutação específica no gene GJB2 é a 35delG, a mais ...
Perfil audiológico e genético de pacientes com perda auditiva sensorioneural não sindrônica atendidos no Hospital das Clínicas da Faculdade de Medicina de Botucatu-Universidade Estadual Paulista
(Universidade Estadual Paulista (Unesp), 2011-12-20)
A deficiência auditiva é o déficit sensorial mais comum e tem dentre as suas diferentes etiologias as alterações genéticas. Mutações na conexina 26 são comuns, e uma mutação específica no gene GJB2 é a 35delG, a mais ...
Genética molecular da deficiência auditiva não-sindrômicaMolecular genetics of non-syndromic deafness
(ABORL-CCF Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial, 2005)