Stem Cell ResearchX-linked hereditary Alport syndrome (XLAS) type 1 (OMIM: 301050) results from a pathogenic variant in the collagen type IV alpha 5 chain (COL4A5) gene.A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells
Denglu Zhang +4 more
doaj +1 more source
COL4A5 gene mutation associated Alport's syndrome in a two-year old boy: a case report
, 2020 Background: Alport's disease is an inherited disorder which may lead to End Stage Renal Disease, hearing loss and ocular abnormalities. It is as a result of mutations in COL4A3, COL4A4 and COL4A5 genes leading to collagen type 4 abnormalities in the ...
Admani, B.
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Type IV collagen : Characterization of the COL4A5 gene, mutations in Alport syndrome, and autoantibodies in Alport and Goodpasture syndromes [PDF]
, 2000 Type IV collagen is only found in basement membranes, where it is the major structural component, providing a framework for the binding of other basement membrane components and a substratum for cells.
Martin, Paula
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Original Article Detection of COL4A5 gene mutations in Chinese patients with Alport’s syndrome
, 2004 Background. Mutations in the COL4A5 gene, encod-ing the 5 chain of type IV collagen, are responsible for X-linked Alport’s syndrome (XLAS), a progressive nephropathy characterized by glomerular basement membrane abnormalities and usually associated with ...
Xiaonong Chen +9 more
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Detection of mutations in COL4A5 in patients with Alport Syndrome
, 1999 Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP ...
Vetrie, David +3 more
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Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism. [PDF]
Chin Med J (Engl), 2023 Zhong L +5 more
europepmc +1 more source
Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene. [PDF]
Clin Exp Nephrol, 2023 Okada E +14 more
europepmc +1 more source
Kidney International ReportsIntroduction: Pathogenic variants in COL4A3–5 are common causes of inherited kidney disease. The clinical presentation extends from classical Alport syndrome (AS) to focal segmental glomerulosclerosis (FSGS) without extrarenal manifestation.
Bastian M. Krüger +27 more
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Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome
Kidney International Reports, 2017 X-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-stage renal disease in early or middle adulthood, and disease severity ...
Tomohiko Yamamura +15 more
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A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing
, 2020 Alport syndrome (AS) is a monogenic disease of the basement membrane (BM), resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies.
Jinzhong Yuan +8 more
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