ArticleAmerican journal of human genetics1998
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 140 citations in OpenAlex.
- Cyclosporine A treatment in patients with Alport syndrome: a single-center experience.Pediatric nephrology (Berlin, Germany) · 2010Trial
- Lysine Oxidation by LOXL2 in Single Strands Versus Triple Helices: Implications for Collagen-Related Diseases.Angewandte Chemie (International ed. in English) · 2026Article
- Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.Scientific reports · 2025Article
- Expanding theRenal failure · 2025Article
- Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.Kidney international reports · 2025Article
- Low-Allele-Frequency Somatic Variants in a Cohort of Sporadic Saccular "Berry" Cerebral Aneurysms.Journal of the American Heart Association · 2025Article
- Phenotype-genotype correlations in patients with Alport syndrome from the Polish population.Journal of nephrology · 2025Article
- Pathological diagnosis of Alport syndrome.Kidney research and clinical practice · 2025Article
- An unusual case of nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- Article
- Abnormal mRNA Splicing Effect ofKidney international reports · 2023Article
- Genetic testing and glomerular hematuria-A nephrologist's perspective.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Identification ofFrontiers in genetics · 2022Article
- Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.Pediatric nephrology (Berlin, Germany) · 2021Article
- Organoprotective Effects of Spironolactone on Top of Ramipril Therapy in a Mouse Model for Alport Syndrome.Journal of clinical medicine · 2021Article
- Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.Pediatric nephrology (Berlin, Germany) · 2021Review
- Multidisciplinary Management of Alport Syndrome: Current Perspectives.Journal of multidisciplinary healthcare · 2021Review
- Features of Autosomal Recessive Alport Syndrome: A Systematic Review.Journal of clinical medicine · 2019Article
- A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State.Frontiers in genetics · 2019Article
- Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.Nephrology (Carlton, Vic.) · 2018Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively. To date, mutation screening in the two genes has been hampered by the lack of genomic structure information. We report here the complete characterization of the 48 exons of the COL4A4 gene, a comprehensive gene screen, and the subsequent detection of 10 novel mutations in eight patients diagnosed with autosomal recessive Alport syndrome. Furthermore, we identified a glycine to alanine substitution in the collagenous domain that is apparently silent in the heterozygous carriers, in 11.5% of all control individuals, and in one control individual homozygous for this glycine substitution. There has been no previous finding of a glycine substitution that is not associated with any obvious phenotype in homozygous individuals.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.