Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil
Two novel variants were identified in two unrelated families from northeast of Brazil. The two deleterious variants identified are located on ROH´s locus with all variants in a homozygous state.
Authors
- Paulo Ricardo Porfírio do Nascimento (ORCID: https://orcid.org/0000-0003-3432-0929)
- Washington Candeia de Araújo (ORCID: https://orcid.org/0009-0002-8400-3315)
- Raquel Araújo Costa Uchôa
- Selma M. B. Jerônimo (ORCID: https://orcid.org/0000-0002-4784-9904)
- Genilson P. Gurgel
- Raul Maia Falcão (ORCID: https://orcid.org/0000-0002-5564-7851)
- Francisco Paulo Freire‐Neto
- Jorge Estefano Santana de Souza (ORCID: https://orcid.org/0000-0003-2347-042X)
- Priya Duggal (ORCID: https://orcid.org/0000-0001-5809-2081)
- Leonardo Capistrano Ferreira
- Arthur Quintiliano Bezerra da Silva
- Carlos Alexandre de Amorim Garcia
- Kesia Larissa Medeiros Quirino
Institutions
- Johns Hopkins University (US)
- Universidade Federal do Rio Grande do Norte (BR)
Publication Details
- Journal
- BMC Genomics
- Published
- 2025-04-02
- DOI
- https://doi.org/10.1186/s12864-025-11466-4
- Citations
- 1
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 1.62
Funders
- Conselho Nacional de Desenvolvimento Científico e Tecnológico