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Article

Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.

Journal of medical genetics - 1 Nov 2013

Sá Maria João Nabais, Fieremans Nathalie, de Brouwer Arjan P M, Sousa Rita, e Costa Fernando Teixeira, Brito Maria José, Carvalho Fernanda, Rodrigues Márcia, de Sousa Francisco Teixeira, Felgueiras Joana, Neves Fernando, Carvalho Adelino, Ramos Umbelina, Vizcaíno José Ramón, Alves Susana, Carvalho Filipa, Froyen Guy, Oliveira João Paulo

Abstract excerpt

BACKGROUND: Alport syndrome (AS), a hereditary type IV collagen nephropathy, is a major cause of end-stage renal disease in young people. About 85% of the cases are X-linked (ATS), due to mutations in the COL4A5 gene. Rarely, families have a contiguous gene deletion comprising at least exon 1 of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23958657
DOI: 10.1136/jmedgenet-2013-101670

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23958657-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.PMID 23958657Read ↗

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Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2Semantic proximity Read ↗

Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis.Semantic proximity Read ↗

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsSemantic proximity Read ↗

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical regionSemantic proximity Read ↗

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X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.Semantic proximity Read ↗

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Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.Semantic proximity Read ↗

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