COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome
Kidney International ReportsIntroduction: Alport syndrome (AS) is an inherited kidney disease caused by variants in the COL4A3, COL4A4, or COL4A5 genes, resulting in type IV collagen abnormalities.
Hideaki Kitakado +14 more
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Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay
Molecular Genetics & Genomic MedicineBackground X‐linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process of the pre‐mRNA
Ran Zhang +8 more
doaj +2 more sources
Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome [PDF]
Scientific Reports, 2022 Alport syndrome is the commonest inherited kidney disease and nearly half the pathogenic variants in the COL4A3–COL4A5 genes that cause Alport syndrome result in Gly substitutions.
Joel T. Gibson +14 more
doaj +4 more sources
A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. [PDF]
PLoS ONE, 2015 Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy.
Barshagul T Baikara +5 more
doaj +1 more source
Alport syndrome: a genetically confirmed x-linked case with early family screening. [PDF]
Batna Journal of Medical SciencesIntroduction: Alport syndrome (AS) is a hereditary nephropathy caused by pathogenic variants in the type IV collagen genes (COL4A3, COL4A4, or COL4A5), leading to structural defects in the glomerular basement membrane, cochlea, and eye.
Sonia Yasmine KIRANE +4 more
doaj +1 more source
Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin [PDF]
, 1999 Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin.BackgroundThe COL4A3-COL4A4-COL4A5 network in the glomerular basement membrane is affected in the inherited renal disorder Alport's syndrome (AS).
Van Der Loop, Frank T.L. +6 more
core +1 more source
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
Frontiers in Medicine, 2022 X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in COL4A5 primarily affects males. Females with a heterozygous state show a diverse phenotypic spectrum ranging from microscopic hematuria to end-stage kidney disease (ESKD) and ...
Roman Günthner +29 more
doaj +1 more source
Deletions of the COL4A5 gene in patients with Alport syndrome [PDF]
, 1992 Deletions of the COL4A5 gene in patients with Alport syndrome. Mutations in the COL4A5 gene encoding the α5 chain of type IV collagen have been found in linkage with X-chromosomal Alport syndrome (AS).
Renders, Lutz +5 more
core +1 more source
Generation of two induced pluripotent stem cell lines from patients with X-linked Alport syndrome
Stem Cell Research, 2021 Mutations in COL4A5 on chromosome Xq22 cause X-linked Alport syndrome (XLAS). In this study, we generated two human induced pluripotent stem cell (iPSC) lines from two male patients carrying mutation c.796C > T (p.R266X) in COL4A5 gene.
Yanyan Ma +7 more
doaj +1 more source
Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain [PDF]
, 1993 Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain.
Van Damme, Boudewijn +5 more
core +1 more source