ArticleClinical and experimental nephrology2016
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.
Article in Clinical and experimental nephrology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 23 citations in OpenAlex.
- 'Missing' disease-causing variants in Alport syndrome.Nature reviews. Nephrology · 2026Review
- Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.BMC medical genomics · 2023Article
- Abnormal mRNA Splicing Effect ofKidney international reports · 2023Article
- Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A ofFrontiers in genetics · 2023Article
- The Contribution ofFrontiers in medicine · 2022Review
- Functional assessment of a novelAnnals of translational medicine · 2021Article
- Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome.Kidney research and clinical practice · 2020Review
- Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.Molecular genetics & genomic medicine · 2020Article
- Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay.Scientific reports · 2019Article
- Establishment of X-linked Alport syndrome model mice with aBiochemistry and biophysics reports · 2019Article
- A review of clinical characteristics and genetic backgrounds in Alport syndrome.Clinical and experimental nephrology · 2019Review
- X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.Orphanet journal of rare diseases · 2018Article
- Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.Journal of the American Society of Nephrology : JASN · 2018Article
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11 authors at 3 institutions in 2 countries.
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Abstract
backgroundX-linked Alport syndrome (XLAS) is a progressive hereditary nephropathy caused by mutations in the type IV collagen alpha chain 5 gene (COL4A5). Although many COL4A5 mutations have previously been identified, pathogenic synonymous mutations have not yet been described.
methodsA family with XLAS underwent mutational analyses of COL4A5 by PCR and direct sequencing, as well as transcript analysis of potential splice site mutations. In silico analysis was also conducted to predict the disruption of splicing factor binding sites. Immunohistochemistry (IHC) of kidney biopsies was used to detect α2 and α5 chain expression.
resultsWe identified a hemizygous point mutation, c.876A>T, in exon 15 of COL4A5 in the proband and his brother, which is predicted to result in a synonymous amino acid change, p.(Gly292Gly). Transcript analysis showed that this mutation potentially altered splicing because it disrupted the splicing factor binding site. The kidney biopsy of the proband showed lamellation of the glomerular basement membrane (GBM), while IHC revealed negative α5(IV) staining in the GBM and Bowman's capsule, which is typical of XLAS.
conclusionsThis is the first report of a synonymous COL4A5 substitution being responsible for XLAS. Our findings suggest that transcript analysis should be conducted for the future correct assessment of silent mutations.
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