Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay [PDF]
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
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Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene [PDF]
Frontiers in Pediatrics, 2023 X-Linked Alport Syndrome (XLAS) is an X-linked, dominant, hereditary nephropathy mainly caused by mutations in the COL4A5 gene, found on chromosome Xq22. In this study, we reported a pedigree with XLAS caused by a COL4A5 mutation.
Nengqing Liu +6 more
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Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome [PDF]
Frontiers in Genetics, 2023 Introduction: Alport syndrome (AS; OMIM#308940) is a progressive hereditary kidney disease characterized by hearing loss and ocular abnormalities.
Lei Liang +3 more
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A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene [PDF]
Frontiers in Medicine, 2023 Alport syndrome (AS) is an inherited glomerular basement membrane (GBM) disease leading to end-stage renal disease (ESRD). X-linked AS (XLAS) is caused by pathogenic variants in the COL4A5 gene. Many pathogenic variants causing AS have been detected, but
Wei-qing Wu +9 more
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A novel mouse model for X-linked Alport syndrome induced by splicing mutation in the Col4a5 gene [PDF]
Scientific ReportsAlport syndrome is a hereditary kidney disease with significant variations in onset and prognosis. While 80–85% of cases are due to pathogenic variants in the COL4A5 gene, there is a notable lack of mouse models with Col4a5 mutations for basic research ...
Zhitao Ye +7 more
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Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome [PDF]
BMC Medical Genomics, 2023 Background Alport syndrome (AS; OMIM#308,940) is a hereditary kidney disease that progresses over time and is distinguished by hearing loss and ocular irregularities.
Lei Liang +3 more
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A variant of unknown significance in the COL4A5 gene-related renal disease: A novel case report [PDF]
SAGE Open Medical Case ReportsIn this case report, we report our findings of a variant of uncertain significance in the COL4A5 gene in four family members. Patient 0 is a 16-year-old female with no prior medical history referred to Pediatric Nephrology for the evaluation of ...
Teresa Trinka, Mohammed Faizan
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The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822–10T>C, which has been identified as a causative factor for Alport syndrome [PDF]
Frontiers in GeneticsAlport Syndrome (AS) is a genetic kidney disorder characterized by progressive hearing loss and atypical eye symptoms, resulting in a poor prognosis and lack of effective targeted therapy.
Lei Liang, Haotian Wu, Jianrong Zhao
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A novel mutation in the COL4A5 gene in the Yakut family with Alport syndrome
Якутский медицинский журнал, 2022 Alport syndrome is a hereditary progressive kidney disease associated with sensorineural hearing loss and vision abnormalities, which is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes encoding the α3, α4, and α5 type IV collagen chains. This
A. M. Cherdonova +8 more
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A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children [PDF]
Case Reports in Nephrology and Dialysis, 2021 Alport syndrome is a heterogeneous genetic disease involving the basement membrane of the glomeruli, inner ear, retina, and lens capsule. It typically manifests as progressive glomerulopathy that frequently results in end-stage renal disease, high-tone ...
Emmanuel Oduware +3 more
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