Molecular study of hearing loss in Minas Gerais, Brazil

Schuffner, Raissa de Oliveira Aquino; Nascimento, Karla Lima; Dias, Fábio André; Silva, Pedro Henrique Teodoro da; Pires, Wrgelles Godinho Bordone; Cipriano, Nilson Moreira; Santos, Luciana Lara dos

doi:10.1016/j.bjorl.2018.12.005

Cited by 6 publications

(5 citation statements)

References 18 publications

(19 reference statements)

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“…The incidence of congenital HL in Brazil is estimated at 4:1,000 births, with 20% (0.8:1,000 or 1:1,250) of cases having a genetic etiology ( Schüffner et al, 2020 ). Interestingly, our estimate (1:2,222) is not very far from the epidemiological study.…”

Section: Discussionmentioning

confidence: 99%

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

Quaio

Coelho²,

Moura³

et al. 2022

Front. Genet.

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Hearing loss (HL) is a common sensory deficit in humans and represents an important clinical and social burden. We studied whole-genome sequencing data of a cohort of 2,097 individuals from the Brazilian Rare Genomes Project who were unaffected by hearing loss to investigate pathogenic and likely pathogenic variants associated with nonsyndromic hearing loss (NSHL). We found relevant frequencies of individuals harboring these alterations: 222 heterozygotes (10.59%) for sequence variants, 54 heterozygotes (2.58%) for copy-number variants (CNV), and four homozygotes (0.19%) for sequence variants. The top five most frequent genes and their corresponding combined allelic frequencies (AF) were GJB2 (AF = 1.57%), STRC (AF = 1%), OTOA (AF = 0.69%), TMPRSS3 (AF = 0.41%), and OTOF (AF = 0.29%). The most frequent sequence variant was GJB2:c.35del (AF = 0.72%), followed by OTOA:p. (Glu787Ter) (AF = 0.61%), while the most recurrent CNV was a microdeletion of 57.9 kb involving the STRC gene (AF = 0.91%). An important fraction of these individuals (n = 104; 4.96%) presented variants associated with autosomal dominant forms of NSHL, which may imply the development of some hearing impairment in the future. Using data from the heterozygous individuals for recessive forms and the Hardy–Weinberg equation, we estimated the population frequency of affected individuals with autosomal recessive NSHL to be 1:2,222. Considering that the overall prevalence of HL in adults ranges from 4–15% worldwide, our data indicate that an important fraction of this condition may be associated with a monogenic origin and dominant inheritance.

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Section: Discussionmentioning

confidence: 99%

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

Quaio

Coelho²,

Moura³

et al. 2022

Front. Genet.

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“…In Brazil, by 2010, the incidence of hearing impairment was approximately 4 cases per 1000 births [78]. Environmental factors contribute to 80% of these cases, while genetic factors are responsible for the remaining 20% [79]. In 2022, Colombia documented 569,311 births based on data from the National Administrative Department of Statistics (DANE).…”

Section: Current Situation In Latin Americamentioning

confidence: 99%

Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America

De Rosa,

Bernardi,

Kleppe

et al. 2024

Genes

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Congenital hearing loss is the most common birth defect, estimated to affect 2–3 in every 1000 births, with ~50–60% of those related to genetic causes. Technological advances enabled the identification of hundreds of genes related to hearing loss (HL), with important implications for patients, their families, and the community. Despite these advances, in Latin America, the population with hearing loss remains underdiagnosed, with most studies focusing on a single locus encompassing the GJB2/GJB6 genes. Here we discuss how current and emerging genetic knowledge has the potential to alter the approach to diagnosis and management of hearing loss, which is the current situation in Latin America, and the barriers that still need to be overcome.

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“…Com uma incidência variável de 1 em cada 300 a 1 em cada 1.000 crianças e uma estimativa de 4 em cada 1.000 nascimentos no Brasil, essa condição torna-se uma das deficiências sensoriais mais comuns. Seu impacto abrange desde o desenvolvimento inadequado da fala, linguagem e cognição até o comprometimento dos aspectos socioemocionais, destacando a importância crítica de um diagnóstico precoce para mitigar tais adversidades (Vernier et al, 2021;Schüffner et al, 2020).…”

Section: Introductionunclassified

O papel dos profissionais da atenção básica na triagem auditiva neonatal: vantagens, desafios e impacto na identificação precoce de deficiências auditivas

Dezincourt,

Fernandes,

Da Silva

et al. 2024

Braz. J. Hea. Rev.

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A surdez infantil representa uma preocupação significativa, impactando não apenas aspectos de saúde, mas também sociais e econômicos. A triagem auditiva neonatal (TAN) surge como uma ferramenta crucial para detectar precocemente problemas auditivos. Apesar de sua importância, a abordagem efetiva da saúde auditiva na atenção primária enfrenta desafios consideráveis no Brasil. Fatores como a escassez de profissionais especializados, vasta extensão territorial, custos dos equipamentos e carência de recursos humanos contribuem para essa realidade. Neste contexto, torna-se evidente o papel fundamental dos profissionais da atenção básica na implementação da triagem auditiva neonatal. Diante desses desafios e da importância desses profissionais, esta revisão tem como objetivo avaliar o engajamento e a eficácia dos profissionais da atenção básica na realização da triagem auditiva neonatal. A presente pesquisa tratou-se de uma revisão integrativa de literatura. Os resultados desta pesquisa foram construídos por meio da análise e interpretação de 10 artigos científicos nesse seguimento. Por fim, os estudos ressaltam a importância da colaboração entre os profissionais de saúde, a sensibilização da população sobre a TAN desde o pré-natal, e a necessidade de uma abordagem integrada para garantir o sucesso da triagem auditiva neonatal e o cuidado efetivo das crianças.

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Molecular study of hearing loss in Minas Gerais, Brazil

Cited by 6 publications

References 18 publications

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America

O papel dos profissionais da atenção básica na triagem auditiva neonatal: vantagens, desafios e impacto na identificação precoce de deficiências auditivas

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