{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:35:49Z","timestamp":1791477349458,"version":"4.3.4"},"reference-count":67,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"9","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["JASN"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:sec>\n                    <jats:title>Significance Statement<\/jats:title>\n                    <jats:p>\n                      The population frequencies of Alport syndrome vary greatly in different reports. This study examined a population sequencing database of individuals not known to have kidney disease using filtering steps corresponding to the American College of Medical Genetics and Genomics\/Association for Molecular Pathology criteria for \u201cpredicted pathogenic\u201d variants in\n                      <jats:italic toggle=\"yes\">COL4A3\u2013COL4A5<\/jats:italic>\n                      , which considered collagen chain position 1 Gly residues \u201ccritical domains.\u201d Predicted pathogenic\n                      <jats:italic toggle=\"yes\">COL4A5<\/jats:italic>\n                      variants occurred in at least one in 2320 individuals. Heterozygous\n                      <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                      or\n                      <jats:italic toggle=\"yes\">COL4A4<\/jats:italic>\n                      variants affected one in 106; compound heterozygous\n                      <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                      or\n                      <jats:italic toggle=\"yes\">COL4A4<\/jats:italic>\n                      variants affected one in 88,866. The actual prevalences are even greater because they also include already diagnosed disease and other variants not examined here. The high frequency of predicted pathogenic\n                      <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                      \u2013\n                      <jats:italic toggle=\"yes\">COL4A5<\/jats:italic>\n                      variants suggests that other genetic and environmental factors mitigate the corresponding clinical manifestations of disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The reported prevalence of Alport syndrome varies from one in 5000 to one in 53,000 individuals. This study estimated the frequencies of predicted pathogenic\n                      <jats:italic toggle=\"yes\">COL4A3\u2013COL4A5<\/jats:italic>\n                      variants in sequencing databases of populations without known kidney disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Predicted pathogenic variants were identified using filtering steps based on the ACMG\/AMP criteria, which considered collagen IV\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      3\u2013\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      5 position 1 Gly to be critical domains. The population frequencies of predicted pathogenic\n                      <jats:italic toggle=\"yes\">COL4A3\u2013COL4A5<\/jats:italic>\n                      variants were then determined per mean number of sequenced alleles. Population frequencies for compound heterozygous and digenic combinations were calculated from the results for heterozygous variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">COL4A3\u2013COL4A5<\/jats:italic>\n                      variants resulting in position 1 Gly substitutions were confirmed to be associated with hematuria (for each,\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      &lt;0.001). Predicted pathogenic\n                      <jats:italic toggle=\"yes\">COL4A5<\/jats:italic>\n                      variants were found in at least one in 2320 individuals. p.(Gly624Asp) represented nearly half (16 of 33, 48%) of the variants in Europeans. Most\n                      <jats:italic toggle=\"yes\">COL4A5<\/jats:italic>\n                      variants (54 of 59, 92%) had a biochemical feature that potentially mitigated the clinical effect. The predicted pathogenic heterozygous\n                      <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">COL4A4<\/jats:italic>\n                      variants affected one in 106 of the population, consistent with the finding of thin basement membrane nephropathy in normal donor kidney biopsy specimens. Predicted pathogenic compound heterozygous variants occurred in one in 88,866 individuals, and digenic variants in at least one in 44,793.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The population frequencies for Alport syndrome are suggested by the frequencies of predicted pathogenic\n                      <jats:italic toggle=\"yes\">COL4A3\u2013COL4A5<\/jats:italic>\n                      variants, but must be adjusted for the disease penetrance of individual variants and for the likelihood of already diagnosed disease and non-Gly substitutions. Disease penetrance may depend on other genetic and environmental factors\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.2020071065","type":"journal-article","created":{"date-parts":[[2021,6,18]],"date-time":"2021-06-18T15:35:22Z","timestamp":1624030522000},"page":"2273-2290","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":211,"title":["Prevalence Estimates of Predicted Pathogenic COL4A3\u2013COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome"],"prefix":"10.1681","volume":"32","author":[{"given":"Joel","family":"Gibson","sequence":"first","affiliation":[{"name":"The University of Melbourne Department of Medicine, Melbourne Health and Northern Health, Royal Melbourne Hospital, Parkville, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Fieldhouse","sequence":"additional","affiliation":[{"name":"Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1968-1734","authenticated-orcid":false,"given":"Melanie M.Y.","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, University College London, London, United Kingdom"},{"name":"Genomics England, Queen Mary University of London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omid","family":"Sadeghi-Alavijeh","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, University College London, London, United Kingdom"},{"name":"Genomics England, Queen Mary University of London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"Burnett","sequence":"additional","affiliation":[{"name":"Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Izzi","sequence":"additional","affiliation":[{"name":"Center for Cell-Matrix Research and Biocenter Oulu, University of Oulu, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anton V.","family":"Persikov","sequence":"additional","affiliation":[{"name":"Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9170-1579","authenticated-orcid":false,"given":"Daniel P.","family":"Gale","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, University College London, London, United Kingdom"},{"name":"Genomics England, Queen Mary University of London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Storey","sequence":"additional","affiliation":[{"name":"Molecular Genetics, Viapath Laboratories, Guy\u2019s Hospital, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy","family":"Savige","sequence":"additional","affiliation":[{"name":"The University of Melbourne Department of Medicine, Melbourne Health and Northern Health, Royal Melbourne Hospital, Parkville, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the Genomics England Research Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2021,9]]},"reference":[{"key":"B1-20240826","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/0002-9343(81)90571-4","article-title":"Alport\u2019s syndrome. A report of 58 cases and a review of the literature","volume":"70","author":"Gubler","year":"1981","journal-title":"Am J Med"},{"key":"B2-20240826","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1126\/science.2349482","article-title":"Identification of mutations in the COL4A5 collagen gene in Alport syndrome","volume":"248","author":"Barker","year":"1990","journal-title":"Science"},{"key":"B3-20240826","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/ng0994-77","article-title":"Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome","volume":"8","author":"Mochizuki","year":"1994","journal-title":"Nat Genet"},{"key":"B4-20240826","doi-asserted-by":"crossref","first-page":"1670","DOI":"10.1046\/j.1523-1755.2001.0590051670.x","article-title":"Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome","volume":"59","author":"Buzza","year":"2001","journal-title":"Kidney Int"},{"key":"B5-20240826","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1046\/j.1523-1755.2003.00780.x","article-title":"Mutations in the COL4A4 gene in thin basement membrane disease","volume":"63","author":"Buzza","year":"2003","journal-title":"Kidney Int"},{"key":"B6-20240826","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1016\/j.ekir.2018.08.002","article-title":"Should we diagnose autosomal dominant Alport syndrome when there is a pathogenic heterozygous COL4A3 or COL4A4 variant?","volume":"3","author":"Savige","year":"2018","journal-title":"Kidney Int Rep"},{"key":"B7-20240826","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1046\/j.1523-1755.2003.00234.x","article-title":"Thin basement membrane nephropathy","volume":"64","author":"Savige","year":"2003","journal-title":"Kidney Int"},{"key":"B8-20240826","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1136\/jmedgenet-2014-102822","article-title":"Evidence of digenic inheritance in Alport syndrome","volume":"52","author":"Mencarelli","year":"2015","journal-title":"J Med Genet"},{"key":"B9-20240826","doi-asserted-by":"crossref","first-page":"3004","DOI":"10.1681\/ASN.2007040444","article-title":"COL4A3\/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy","volume":"18","author":"Voskarides","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"B10-20240826","doi-asserted-by":"crossref","first-page":"e0155255","DOI":"10.1371\/journal.pone.0155255","article-title":"Podocyte depletion in thin GBM and Alport syndrome","volume":"11","author":"Wickman","year":"2016","journal-title":"PLoS One"},{"key":"B11-20240826","first-page":"359","article-title":"Rare diseases in Europe: from a wide to a local perspective","volume":"18","author":"Baldovino","year":"2016","journal-title":"Isr Med Assoc J"},{"key":"B12-20240826","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1038\/ejhg.2014.254","article-title":"Clinical utility gene card for: Alport syndrome \u2013 update 2014","volume":"23","author":"Hertz","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"B13-20240826","first-page":"1241","article-title":"X-linked inheritance of Alport syndrome: Family P revisited","volume":"35","author":"Hasstedt","year":"1983","journal-title":"Am J Hum Genet"},{"key":"B14-20240826","doi-asserted-by":"crossref","first-page":"85","DOI":"10.5414\/CNP64085","article-title":"Alport syndrome in southern Sweden","volume":"64","author":"Persson","year":"2005","journal-title":"Clin Nephrol"},{"key":"B15-20240826","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1111\/j.1651-2227.1996.tb13915.x","article-title":"Alport\u2019s syndrome in 78 patients: Epidemiological and clinical study","volume":"85","author":"Pajari","year":"1996","journal-title":"Acta Paediatr"},{"key":"B16-20240826","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/S0022-3476(76)81012-8","article-title":"Proteinuria and hematuria in schoolchildren: epidemiology and early natural history","volume":"88","author":"Dodge","year":"1976","journal-title":"J Pediatr"},{"key":"B17-20240826","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1136\/bmj.292.6521.681","article-title":"Importance of occult haematuria found at screening","volume":"292","author":"Ritchie","year":"1986","journal-title":"Br Med J (Clin Res Ed)"},{"key":"B18-20240826","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1136\/jcp.43.6.457","article-title":"Incidence of thin membrane nephropathy: Morphometric investigation of a population sample","volume":"43","author":"Dische","year":"1990","journal-title":"J Clin Pathol"},{"key":"B19-20240826","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1681\/ASN.2012020148","article-title":"Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy","volume":"24","author":"Savige","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"B20-20240826","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1681\/ASN.V114649","article-title":"X-linked Alport syndrome: Natural history in 195 families and genotype- phenotype correlations in males","volume":"11","author":"Jais","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"B21-20240826","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1097\/01.ASN.0000090034.71205.74","article-title":"X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families: A \u201cEuropean Community Alport Syndrome Concerted Action\u201d study","volume":"14","author":"Jais","year":"2003","journal-title":"J Am Soc Nephrol"},{"key":"B22-20240826","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.2215\/CJN.00580116","article-title":"Alport syndrome in women and girls","volume":"11","author":"Savige","year":"2016","journal-title":"Clin J Am Soc Nephrol"},{"key":"B23-20240826","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1007\/s00467-018-3985-4","article-title":"Expert consensus guidelines for the genetic diagnosis of Alport syndrome","volume":"34","author":"Savige","year":"2019","journal-title":"Pediatr Nephrol"},{"key":"B24-20240826","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"B25-20240826","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3109\/07853890109002055","article-title":"Collagens and collagen-related diseases","volume":"33","author":"Myllyharju","year":"2001","journal-title":"Ann Med"},{"key":"B26-20240826","article-title":"Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: Refining the ACMG criteria [published online ahead of print April 15, 2021]","author":"Savige","journal-title":"Eur J Hum Genet"},{"key":"B27-20240826","doi-asserted-by":"crossref","first-page":"23013","DOI":"10.1016\/S0021-9258(17)31612-5","article-title":"Complete primary structure of the human alpha 3(IV) collagen chain. Coexpression of the alpha 3(IV) and alpha 4(IV) collagen chains in human tissues","volume":"269","author":"Mariyama","year":"1994","journal-title":"J Biol Chem"},{"key":"B28-20240826","doi-asserted-by":"crossref","first-page":"26172","DOI":"10.1016\/S0021-9258(18)47174-8","article-title":"Complete primary structure of the human type IV collagen alpha 4(IV) chain. Comparison with structure and expression of the other alpha (IV) chains","volume":"269","author":"Leinonen","year":"1994","journal-title":"J Biol Chem"},{"key":"B29-20240826","doi-asserted-by":"crossref","first-page":"12475","DOI":"10.1016\/S0021-9258(18)42301-0","article-title":"Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient","volume":"267","author":"Zhou","year":"1992","journal-title":"J Biol Chem"},{"key":"B30-20240826","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1111\/j.1399-0004.2011.01647.x","article-title":"X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5","volume":"81","author":"Demosthenous","year":"2012","journal-title":"Clin Genet"},{"key":"B31-20240826","doi-asserted-by":"crossref","first-page":"2593","DOI":"10.1681\/ASN.2018050493","article-title":"Prevalence estimates of polycystic kidney and liver disease by population sequencing","volume":"29","author":"Lanktree","year":"2018","journal-title":"J Am Soc Nephrol"},{"key":"B32-20240826","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"B34-20240826","doi-asserted-by":"crossref","first-page":"2348","DOI":"10.1681\/ASN.2017121265","article-title":"Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract","volume":"29","author":"van der Ven","year":"2018","journal-title":"J Am Soc Nephrol"},{"key":"B35-20240826","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1038\/gim.2017.218","article-title":"Adaptation and validation of the ACMG\/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen\u2019s Inherited Cardiomyopathy Expert Panel","volume":"20","author":"Kelly","year":"2018","journal-title":"Genet Med"},{"key":"B36-20240826","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1038\/gim.2018.42","article-title":"The ACMG\/AMP reputable source criteria for the interpretation of sequence variants","volume":"20","author":"Biesecker","year":"2018","journal-title":"Genet Med"},{"key":"B37-20240826","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1038\/gim.2018.43","article-title":"Response to Biesecker and Harrison","volume":"20","author":"Richards","year":"2018","journal-title":"Genet Med"},{"key":"B38-20240826","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1002\/humu.23626","article-title":"Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion","volume":"39","author":"Abou Tayoun","year":"2018","journal-title":"Hum Mutat"},{"key":"B39-20240826","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1038\/ki.2013.479","article-title":"Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV \u03b15 chain","volume":"85","author":"Hashimura","year":"2014","journal-title":"Kidney Int"},{"key":"B40-20240826","doi-asserted-by":"crossref","first-page":"e0161802","DOI":"10.1371\/journal.pone.0161802","article-title":"X-linked and autosomal recessive Alport syndrome: Pathogenic variant features and further genotype-phenotype correlations","volume":"11","author":"Savige","year":"2016","journal-title":"PLoS One"},{"key":"B41-20240826","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1002\/humu.20091","article-title":"Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders","volume":"24","author":"Persikov","year":"2004","journal-title":"Hum Mutat"},{"key":"B42-20240826","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1681\/ASN.2012100985","article-title":"COL4A3\/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome","volume":"24","author":"Storey","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"B43-20240826","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1038\/sj.ki.5002221","article-title":"Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria","volume":"71","author":"Slajpah","year":"2007","journal-title":"Kidney Int"},{"key":"B44-20240826","doi-asserted-by":"crossref","first-page":"485","DOI":"10.3389\/fped.2019.00485","article-title":"The hypomorphic variant p.(Gly624Asp) in COL4A5 as a possible cause for an unexpected severe phenotype in a family with X-linked Alport syndrome","volume":"7","author":"Macheroux","year":"2019","journal-title":"Front Pediatr"},{"key":"B45-20240826","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1016\/j.kint.2020.10.040","article-title":"Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central\/East Europe and causes kidney failure in midlife","volume":"99","author":"\u017burowska","year":"2021","journal-title":"Kidney Int"},{"key":"B46-20240826","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/ki.1985.63","article-title":"Genetic heterogeneity of Alport syndrome","volume":"27","author":"Feingold","year":"1985","journal-title":"Kidney Int"},{"key":"B47-20240826","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1172\/JCI118893","article-title":"Benign familial hematuria due to mutation of the type IV collagen alpha 4 gene","volume":"98","author":"Lemmink","year":"1996","journal-title":"J Clin Invest"},{"key":"B48-20240826","doi-asserted-by":"crossref","first-page":"14960","DOI":"10.1021\/bi001560d","article-title":"Amino acid propensities for the collagen triple-helix","volume":"39","author":"Persikov","year":"2000","journal-title":"Biochemistry"},{"key":"B49-20240826","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1111\/cge.12919","article-title":"Alport syndrome: impact of digenic inheritance in patients management","volume":"92","author":"Fallerini","year":"2017","journal-title":"Clin Genet"},{"key":"B50-20240826","doi-asserted-by":"crossref","first-page":"4787","DOI":"10.1074\/jbc.M705773200","article-title":"Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta","volume":"283","author":"Makareeva","year":"2008","journal-title":"J Biol Chem"},{"key":"B51-20240826","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1038\/ki.2011.407","article-title":"Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy","volume":"81","author":"Gross","year":"2012","journal-title":"Kidney Int"},{"key":"B52-20240826","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s12687-017-0318-4","article-title":"Genetics in an isolated population like Finland: A different basis for genomic medicine?","volume":"8","author":"K\u00e4\u00e4ri\u00e4inen","year":"2017","journal-title":"J Community Genet"},{"key":"B54-20240826","doi-asserted-by":"crossref","first-page":"2721","DOI":"10.1093\/ndt\/gfp158","article-title":"Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3\/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis","volume":"24","author":"Pierides","year":"2009","journal-title":"Nephrol Dial Transplant"},{"key":"B55-20240826","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1093\/ckj\/sfz176","article-title":"Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: A systematic review","volume":"13","author":"Matthaiou","year":"2020","journal-title":"Clin Kidney J"},{"key":"B56-20240826","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.ekir.2018.01.008","article-title":"Genotype and outcome after kidney transplantation in Alport syndrome","volume":"3","author":"Gillion","year":"2018","journal-title":"Kidney Int Rep"},{"key":"B57-20240826","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1056\/NEJMoa1806891","article-title":"Diagnostic utility of exome sequencing for kidney disease","volume":"380","author":"Groopman","year":"2019","journal-title":"N Engl J Med"},{"key":"B58-20240826","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1111\/cge.12258","article-title":"Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases","volume":"86","author":"Fallerini","year":"2014","journal-title":"Clin Genet"},{"key":"B59-20240826","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.kint.2018.02.027","article-title":"A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases","volume":"94","author":"Bullich","year":"2018","journal-title":"Kidney Int"},{"key":"B60-20240826","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1016\/j.kint.2019.12.015","article-title":"A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport\u2019s syndrome","volume":"97","author":"Gross","year":"2020","journal-title":"Kidney Int"},{"key":"B61-20240826","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/humu.1163","article-title":"Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome","volume":"18","author":"Hertz","year":"2001","journal-title":"Hum Mutat"},{"key":"B62-20240826","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<124::AID-HUMU4>3.0.CO;2-Z","article-title":"Detection of mutations in COL4A5 in patients with Alport syndrome","volume":"13","author":"Plant","year":"1999","journal-title":"Hum Mutat"},{"key":"B63-20240826","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1002\/humu.9453","article-title":"A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome","volume":"27","author":"King","year":"2006","journal-title":"Hum Mutat"},{"key":"B64-20240826","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1034\/j.1399-0004.1999.560312.x","article-title":"Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients","volume":"56","author":"Cruz-Robles","year":"1999","journal-title":"Clin Genet"},{"key":"B65-20240826","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1681\/ASN.2009070784","article-title":"Genotype-phenotype correlation in X-linked Alport syndrome","volume":"21","author":"Bekheirnia","year":"2010","journal-title":"J Am Soc Nephrol"},{"key":"B66-20240826","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1007\/s00467-013-2682-6","article-title":"A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations","volume":"29","author":"Mohammad","year":"2014","journal-title":"Pediatr Nephrol"},{"key":"B67-20240826","first-page":"1221","article-title":"Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome","volume":"59","author":"Knebelmann","year":"1996","journal-title":"Am J Hum Genet"},{"key":"B68-20240826","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1016\/S0272-6386(99)70042-9","article-title":"Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport\u2019s syndrome by RT-PCR and direct sequencing","volume":"34","author":"Inoue","year":"1999","journal-title":"Am J Kidney Dis"},{"key":"B69-20240826","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1111\/j.1440-1797.2010.01438.x","article-title":"Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China","volume":"16","author":"Zhang","year":"2011","journal-title":"Nephrology (Carlton)"}],"container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.1681\/ASN.2020071065","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:29:39Z","timestamp":1786130979000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.1681\/ASN.2020071065"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":67,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.2020071065","relation":{},"ISSN":["1046-6673","1533-3450"],"issn-type":[{"value":"1046-6673","type":"print"},{"value":"1533-3450","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"2020-07-24","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-05","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}