Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

Background Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X‐linked ATS) and in two autosomal genes, COL4A4 and COL4A3, responsible of both recessive ATS and, whe...

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Bibliographic Details
Published in:Molecular genetics & genomic medicine 2021-02, Vol.9 (2), p.e1576-n/a
Main Authors: Uliana, Vera, Sebastio, Paola, Riva, Matteo, Carli, Diana, Ruberto, Claudio, Bianchi, Laura, Graziano, Claudio, Capelli, Irene, Faletra, Flavio, Pillon, Roberto, Mattina, Teresa, Sensi, Alberto, Bonatti, Francesco, Percesepe, Antonio
Format: Article
Language:English
Subjects:
Abnormalities
Age
Alport syndrome
COL4A3
COL4A4 gene mutations
COL4A5
Confidence intervals
Deafness
Females
Genes
Genetic analysis
Genetic testing
Genotype & phenotype
Genotypes
Glycine
Hematuria
Heterozygotes
Kidney diseases
Mutation
Nephritis
Nephropathy
Ontology
Original
Pathogenesis
Phenotypes
Renal failure
Splicing
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Summary:Background Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X‐linked ATS) and in two autosomal genes, COL4A4 and COL4A3, responsible of both recessive ATS and, when present in heterozygosity, of a spectrum of phenotypes ranging from isolated hematuria to frank renal disease. Methods Retrospective analysis of the clinical and genetic features of 76 patients from 34 unrelated ATS families (11 with mutations in COL4A5, 11 in COL4A3, and 12 in COL4A4) and genotype/phenotype correlation for the COL4A3/COL4A4 heterozygotes (34 patients from 14 families). Results Eight (24%) of the 34 heterozygous COL4A3 and COL4A4 carriers developed renal failure at a mean age of 57 years, with a significantly lower risk than hemizygous COL4A5 or double heterozygous COL4A3/COL4A4 carriers (p 
ISSN:2324-9269
2324-9269
DOI:10.1002/mgg3.1576