Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families
The present results confirmed that next-generation sequencing is an effective tool for identifying causative variants in autosomal recessive hearing loss. To our knowledge, this is the first report of next-generation sequencing being applied to a large cohort of pedigrees with presumable autosomal recessive hearing loss in Brazil and South America.
Authors
- Karina Lezirovitz (ORCID: https://orcid.org/0000-0002-7495-9789)
- Beatriz de Castro Andrade Mendes (ORCID: https://orcid.org/0000-0003-2141-5582)
- Regina Célia Mingroni‐Netto (ORCID: https://orcid.org/0000-0001-9233-5227)
- Débora Romeo Bertola (ORCID: https://orcid.org/0000-0002-4701-6777)
- Alex Marcel Moreira Dias
- Larissa Nascimento Antunes
- Beatriz Cetalle Schiavo
Institutions
- Instituto Biológico (BR)
- Universidade de São Paulo (BR)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
- Pontifícia Universidade Católica de São Paulo (BR)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-10-21
- DOI
- https://doi.org/10.3389/fgene.2024.1409306
- Citations
- 2
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.72
Funders
- Pontifícia Universidade Católica de São Paulo
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Conselho Nacional de Desenvolvimento Científico e Tecnológico