Evidence map›Paper›PMID 40169949›Full record

ArticleBMC genomics2025

Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil.

Washington Candeia de Araújo, Raul Maia Falcão, Raquel Araujo Costa Uchoa, Carlos Alexandre Garcia, Arthur Quintiliano Bezerra da Silva, Kesia Larissa Medeiros Quirino, Francisco Paulo Freire-Neto, Genilson Pereira Gurgel, Paulo Ricardo Porfirio Nascimento, Leonardo Capistrano Ferreira and 3 more

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Article in BMC genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Washington Candeia de Araújo *Institute of Tropical Medicine of Rio Grande do Norte, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
Raul Maia Falcão *Biome, Bioinformatics Multidisciplinary Environment, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
Raquel Araujo Costa UchoaInstitute of Tropical Medicine of Rio Grande do Norte, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
Carlos Alexandre GarciaInstitute of Tropical Medicine of Rio Grande do Norte, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
Arthur Quintiliano Bezerra da SilvaDivision of Nephrology, Department of Medicine, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
Kesia Larissa Medeiros QuirinoInstitute of Tropical Medicine of Rio Grande do Norte, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
Francisco Paulo Freire-NetoInstitute of Tropical Medicine of Rio Grande do Norte, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
Genilson Pereira GurgelDepartment of Biochemistry, Biosciences Center, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
Paulo Ricardo Porfirio NascimentoInstitute of Tropical Medicine of Rio Grande do Norte, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
Leonardo Capistrano FerreiraInstitute of Tropical Medicine of Rio Grande do Norte, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
Priya DuggalDepartment of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
Jorge Estefano S de SouzaBiome, Bioinformatics Multidisciplinary Environment, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
Selma M B JeronimoInstitute of Tropical Medicine of Rio Grande do Norte, Federal University of Rio Grande do Norte, Natal, RN, Brazil. selma.jeronimo@ufrn.br.

Funding

Conselho Nacional de Desenvolvimento Científico e Tecnológico 305564/2020
6 · The paper itself

Abstract

backgroundAlport syndrome is a progressive and hereditary nephropathy characterized by hematuria and proteinuria as well as extra renal manifestations as hearing loss and eye abnormalities. The disease can be expressed as autosomal recessive or autosomal dominant at COL4A3 and COL4A4 loci, respectively, or X-linked at the COL4A5 locus. This study investigated two unrelated families with nephropathy from Brazil with the aim to identify the mutations involved with the disease.

methodsWhole Exome Sequencing was performed for 4 people from each pedigree (case, parents and a sibling). DNA sequences were mapped against the human genome (GRCh38/hg38 build) to identify associated mutations.

resultsTwo novel deleterious variants in COL4A3 and COL4A4 loci on chromosome 2 were identified. The variants were detected in the probands with mutant alleles in the homozygous state, a premature stop codon at position 481 of COL4A3 protein and a frameshift mutation leading to a stop codon at position 786 of COL4A4 protein. For both Alport cases the putative variants were surrounded by broad Runs of Homozygosity as well as genes associated with other hereditary nephropathies. Genotyping for COL4A3 validated the exome findings.

conclusionsTwo 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.

Indexed as

AutoantigensCollagen Type IVExome SequencingNephritis, HereditaryAdultBrazilFemaleHumansMaleMutationPedigreeAutoantigensCOL4A4 protein, humanCollagen Type IVtype IV collagen alpha3 chainAlport syndromeCollagenExome

Identifiers

PMID40169949
PMCPMC11963644

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