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COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA. Storey H, et al. J Am Soc Nephrol. 2013 Dec;24(12):1945-54. doi: 10.1681/ASN.2012100985. Epub 2013 Sep 19. J Am Soc Nephrol. 2013. PMID: 24052634 Free PMC article.
Twenty mutation pairs (50%) affected COL4A3 and 20 pairs affected COL4A4. Of the 68 variants identified, 39 were novel, 12 were homozygous changes, and 9 were present in multiple individuals, including c.2906C>G (p.(Ser969*)) in COL4A4, which was found in 23% of …
Twenty mutation pairs (50%) affected COL4A3 and 20 pairs affected COL4A4. Of the 68 variants identified, 39 were novel, 12 were homoz …
Heterozygous Pathogenic COL4A3 and COL4A4 Variants (Autosomal Dominant Alport Syndrome) Are Common, and Not Typically Associated With End-Stage Kidney Failure, Hearing Loss, or Ocular Abnormalities.
Savige J. Savige J. Kidney Int Rep. 2022 Jun 7;7(9):1933-1938. doi: 10.1016/j.ekir.2022.06.001. eCollection 2022 Sep. Kidney Int Rep. 2022. PMID: 36090501 Free PMC article. Review.
However all the cited studies of heterozygous pathogenic COL4A3 or COL4A4 variants and kidney failure are from hospital-based patients and thus biased toward more severe disease. ...In the normal population, heterozygous pathogenic COL4A3 and COL4A4 variants are pre …
However all the cited studies of heterozygous pathogenic COL4A3 or COL4A4 variants and kidney failure are from hospital-based patient …
Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.
Yuan X, Su Q, Wang H, Shi S, Liu L, Lv J, Wang S, Zhu L, Zhang H. Yuan X, et al. J Am Soc Nephrol. 2023 Jan 1;34(1):132-144. doi: 10.1681/ASN.2021111447. Epub 2022 Oct 5. J Am Soc Nephrol. 2023. PMID: 36130833 Free PMC article.
Type IV collagen-built of alpha 3, alpha 4, and alpha 5 chains, encoded by COL4A3 / COL4A4 / COL4A5 genes-is the major component of glomerular basement membrane (GBM). ...These findings suggest different mechanisms in patients with versus without diagnostic variants of the …
Type IV collagen-built of alpha 3, alpha 4, and alpha 5 chains, encoded by COL4A3 / COL4A4 / COL4A5 genes-is the major component of g …
Digenic Alport Syndrome.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT. Savige J, et al. Clin J Am Soc Nephrol. 2022 Nov;17(11):1697-1706. doi: 10.2215/CJN.03120322. Epub 2022 Jun 8. Clin J Am Soc Nephrol. 2022. PMID: 35675912 Free PMC article. Review.
Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4 Where digenic Alport syndrome includes a pathogenic COL4A5 variant, the consequences depend on the sex of the affected individual, COL4A …
Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4 …
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE. Kashtan CE. Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: 10.1053/j.ajkd.2020.03.026. Epub 2020 Jul 22. Am J Kidney Dis. 2021. PMID: 32712016 Review.
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. Alport syndrome can be transmitted as an X-linked, autosomal rece …
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting …
Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F. Savige J, et al. Clin J Am Soc Nephrol. 2022 Jan;17(1):143-154. doi: 10.2215/CJN.04230321. Epub 2021 Dec 20. Clin J Am Soc Nephrol. 2022. PMID: 34930753 Free PMC article.
Alport syndrome experts now advocate genetic testing for persistent hematuria, even when a heterozygous pathogenic COL4A3 or COL4A4 is suspected, and cascade testing of their first-degree family members because of their risk of impaired kidney function. The experts recomme …
Alport syndrome experts now advocate genetic testing for persistent hematuria, even when a heterozygous pathogenic COL4A3 or COL4A4 i …
Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing.
Deng H, Zhang Y, Ding J, Wang F. Deng H, et al. Front Med (Lausanne). 2022 Mar 21;9:838983. doi: 10.3389/fmed.2022.838983. eCollection 2022. Front Med (Lausanne). 2022. PMID: 35386907 Free PMC article.
The aim of this study was to evaluate the pathogenicity of presumed COL4A3/COL4A4 missense and synonymous variants detected by next-generation sequencing to provide evidence for diagnosis and genetic counselling. ...An in vitro minigene assay was conducted to assess the ef …
The aim of this study was to evaluate the pathogenicity of presumed COL4A3/COL4A4 missense and synonymous variants detected by next-g …
Association of TIMP-1 and COL4A4 Gene Polymorphisms with Keratoconus in an Iranian Population.
Yari D, Ehsanbakhsh Z, Validad MH, Langroudi FH. Yari D, et al. J Ophthalmic Vis Res. 2020 Aug 6;15(3):299-307. doi: 10.18502/jovr.v15i3.7448. eCollection 2020 Jul-Sep. J Ophthalmic Vis Res. 2020. PMID: 32864060 Free PMC article. Review.
A decrease in TIMP-1 level is associated with the development of KC. In the present study, we investigated the impact of COL4A4 rs2228557 C/T and TIMP-1 rs4898 C/T (X-chromosome) variants on the odds of KC development in a sample of Iranian population. ...
A decrease in TIMP-1 level is associated with the development of KC. In the present study, we investigated the impact of COL4A4 rs222 …
Complexities of the glomerular basement membrane.
Naylor RW, Morais MRPT, Lennon R. Naylor RW, et al. Nat Rev Nephrol. 2021 Feb;17(2):112-127. doi: 10.1038/s41581-020-0329-y. Epub 2020 Aug 24. Nat Rev Nephrol. 2021. PMID: 32839582 Review.
Defects in GBM components are associated with a range of hereditary human diseases such as Alport syndrome, which is caused by defects in the genes COL4A3, COL4A4 and COL4A5, and Pierson syndrome, which is caused by variants in LAMB2. ...
Defects in GBM components are associated with a range of hereditary human diseases such as Alport syndrome, which is caused by defects in th …
Alport Syndrome.
Watson S, Padala SA, Hashmi MF, Bush JS. Watson S, et al. 2023 Aug 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Aug 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 29262041 Free Books & Documents.
Alport syndrome, also known as hereditary nephritis, is a genetic disorder arising from the mutations in the genes encoding alpha-3, alpha-4, and alpha-5 of type 4 collagen (COL4A3, COL4A4, COL4A5) or collagen 4 alpha345 network. The type 4 collagen alpha chains are primar …
Alport syndrome, also known as hereditary nephritis, is a genetic disorder arising from the mutations in the genes encoding alpha-3, alpha-4 …
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