{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T03:23:22Z","timestamp":1762917802164},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s12882-017-0735-y","type":"journal-article","created":{"date-parts":[[2017,10,31]],"date-time":"2017-10-31T15:47:32Z","timestamp":1509464852000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene"],"prefix":"10.1186","volume":"18","author":[{"given":"C.","family":"Cervera-Acedo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Coloma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Huarte-Loza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Sierra-Carpio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Dom\u00ednguez-Garrido","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,10,31]]},"reference":[{"issue":"5","key":"735_CR1","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1038\/ki.1996.459","volume":"50","author":"CE Kashtan","year":"1996","unstructured":"Kashtan CE, Michael AF. Alport syndrome. Kidney Int. 1996;50(5):1445\u201363.","journal-title":"Kidney Int"},{"issue":"3","key":"735_CR2","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1007\/BF00849245","volume":"1","author":"N Gretz","year":"1987","unstructured":"Gretz N, Broyer M, Brunner FP, Brynger H, Donckerwolcke RA, Jacobs C, et al. Alport\u2019s syndrome as a cause of renal failure in Europe. Pediatr Nephrol. 1987;1(3):411\u20135.","journal-title":"Pediatr Nephrol"},{"issue":"3","key":"735_CR3","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1046\/j.1523-1755.2000.00250.x","volume":"58","author":"M Levy","year":"2000","unstructured":"Levy M, Feingold J. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int. 2000;58(3):925\u201343.","journal-title":"Kidney Int"},{"issue":"15","key":"735_CR4","doi-asserted-by":"crossref","first-page":"8767","DOI":"10.1074\/jbc.273.15.8767","volume":"273","author":"S Gunwar","year":"1998","unstructured":"Gunwar S, Ballester F, Noelken ME, Sado Y, Ninomiya Y, Hudson BG. Glomerular basement membrane: identification of a novel disulfide-cross-linked network of alpha3, alpha4, and alpha5 chains of type IV collagen and its implications for the pathogenesis of Alport syndrome. J Biol Chem. 1998;273(15):8767\u201375.","journal-title":"J Biol Chem"},{"issue":"3","key":"735_CR5","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1093\/ndt\/gfi312","volume":"21","author":"I Longo","year":"2006","unstructured":"Longo I, Scala E, Mari F, Caselli R, Pescucci C, Mencarelli MA, et al. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. Nephrol Dial Transplant. 2006;21(3):665\u201371.","journal-title":"Nephrol Dial Transplant"},{"issue":"2","key":"735_CR6","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1046\/j.1523-1755.1999.00601.x","volume":"56","author":"Y Pirson","year":"1999","unstructured":"Pirson Y. Making the diagnosis of Alport\u2019s syndrome. Kidney Int. 1999;56(2):760\u201375.","journal-title":"Kidney Int"},{"issue":"4","key":"735_CR7","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1681\/ASN.V114649","volume":"11","author":"JP Jais","year":"2000","unstructured":"Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, et al. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000;11(4):649\u201357.","journal-title":"J Am Soc Nephrol"},{"issue":"10","key":"735_CR8","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1097\/01.ASN.0000090034.71205.74","volume":"14","author":"JP Jais","year":"2003","unstructured":"Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, et al. 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. J Am Soc Nephrol. 2003;14(10):2603\u201310.","journal-title":"J Am Soc Nephrol"},{"issue":"6","key":"735_CR9","first-page":"1024","volume":"46","author":"JC Myers","year":"1990","unstructured":"Myers JC, Jones TA, Pohjolainen ER, Kadri AS, Goddard AD, Sheer D, et al. Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus. Am J Hum Genet. 1990;46(6):1024\u201333.","journal-title":"Am J Hum Genet"},{"issue":"6","key":"735_CR10","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1093\/ndt\/gfm024","volume":"22","author":"CE Kashtan","year":"2007","unstructured":"Kashtan CE. Alport syndrome and the X chromosome: implications of a diagnosis of Alport syndrome in females. Nephrol Dial Transplant. 2007;22(6):1499\u2013505.","journal-title":"Nephrol Dial Transplant"},{"issue":"6","key":"735_CR11","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1046\/j.1523-1755.2002.00379.x","volume":"61","author":"I Longo","year":"2002","unstructured":"Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, et al. COL4A3\/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int. 2002;61(6):1947\u201356.","journal-title":"Kidney Int"},{"issue":"5","key":"735_CR12","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1093\/ndt\/gfn681","volume":"24","author":"E Marcocci","year":"2009","unstructured":"Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, et al. Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. Nephrol Dial Transplant. 2009;24(5):1464\u201371.","journal-title":"Nephrol Dial Transplant"},{"issue":"1","key":"735_CR13","doi-asserted-by":"crossref","first-page":"c9","DOI":"10.1159\/000320876","volume":"118","author":"CE Kashtan","year":"2011","unstructured":"Kashtan CE, Segal Y. Genetic disorders of glomerular basement membranes. Nephron Clin Pract. 2011;118(1):c9\u2013c18.","journal-title":"Nephron Clin Pract"},{"issue":"1","key":"735_CR14","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/ng0994-77","volume":"8","author":"T Mochizuki","year":"1994","unstructured":"Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, et al. Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet. 1994;8(1):77\u201381.","journal-title":"Nat Genet"},{"key":"735_CR15","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1093\/ndt\/12.8.1595","volume":"12","author":"JA Jefferson","year":"1997","unstructured":"Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJM, Doherty CC, et al. Autosomal dominant Alport syndrome linked to the type IV collage a3 and a4 genes (COL4A3 and COL4A4). Nephrol Dial Transpl. 1997;12:1595\u20139.","journal-title":"Nephrol Dial Transpl"},{"issue":"5","key":"735_CR16","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1111\/j.1523-1755.2004.00560.x","volume":"65","author":"C Pescucci","year":"2004","unstructured":"Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, et al. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int. 2004;65(5):1598\u2013603.","journal-title":"Kidney Int"},{"key":"735_CR17","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#","volume":"9","author":"H Lemmink","year":"1997","unstructured":"Lemmink H, Schroder C, Monnens L, Smeets H. The clinical spectrum of type IV collagen mutations. Hum Mutat. 1997;9:477\u201399.","journal-title":"Hum Mutat"},{"key":"735_CR18","doi-asserted-by":"crossref","unstructured":"8der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, et al. Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int. 2000;58(5):1870\u20135.","DOI":"10.1111\/j.1523-1755.2000.00358.x"},{"issue":"10","key":"735_CR19","doi-asserted-by":"crossref","first-page":"2008","DOI":"10.1093\/ndt\/16.10.2008","volume":"16","author":"M Ciccarese","year":"2001","unstructured":"Ciccarese M, Casu D, Ki Wong F, Faedda R, Arvidsson S, Tonolo G, et al. Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. Nephrol Dial Transplant. 2001;16(10):2008\u201312.","journal-title":"Nephrol Dial Transplant"},{"issue":"2","key":"735_CR20","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1046\/j.1523-1755.2001.060002480.x","volume":"60","author":"M Buzza","year":"2001","unstructured":"Buzza M, Wang YY, Dagher H, Babon JJ, Cotton RG, Powell H, et al. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome. Kidney Int. 2001;60(2):480\u20133.","journal-title":"Kidney Int"},{"issue":"5","key":"735_CR21","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1007\/s00467-006-0393-y","volume":"22","author":"K Rana","year":"2007","unstructured":"Rana K, Tonna S, Wang YY, Sin L, Lin T, Shaw E, et al. Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases. Pediatr Nephrol. 2007;22(5):652\u20137.","journal-title":"Pediatr Nephrol"},{"issue":"4","key":"735_CR22","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1038\/ki.1995.163","volume":"47","author":"MC Gubler","year":"1995","unstructured":"Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, et al. Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int. 1995;47(4):1142\u20137.","journal-title":"Kidney Int"},{"issue":"4","key":"735_CR23","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1038\/sj.ki.5002365","volume":"72","author":"N Patey-Mariaud de Serre","year":"2007","unstructured":"Patey-Mariaud de Serre N, Garfa M, Bessi\u00e9res B, No\u00ebl L, Knebelmann B. Collagen alpha5 and alpha2 (IV) chain coexpression: analysis of skin biopsies of Alport patients. Kidney Int. 2007;72(4):512\u20136.","journal-title":"Kidney Int"},{"issue":"4","key":"735_CR24","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/ki.1985.63","volume":"27","author":"J Feingold","year":"1985","unstructured":"Feingold J, Bois E, Chompret A, Broyer M, Gubler MC, Grunfeld JP. Genetic heterogeneity of Alport syndrome. Kidney Int. 1985;27(4):672\u20137.","journal-title":"Kidney Int"},{"issue":"5","key":"735_CR25","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1681\/ASN.2009070784","volume":"21","author":"MR Bekheirnia","year":"2010","unstructured":"Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, et al. Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol. 2010;21(5):876\u201383.","journal-title":"J Am Soc Nephrol"},{"issue":"3","key":"735_CR26","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1111\/j.1523-1755.2004.00453.x","volume":"65","author":"YY Wang","year":"2004","unstructured":"Wang YY, Rana K, Tonna S, Lin T, Sin L, Savige J. COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN). Kidney Int. 2004;65(3):786\u201390.","journal-title":"Kidney Int"},{"key":"735_CR27","first-page":"1016","volume":"4","author":"J Pochet","year":"1989","unstructured":"Pochet J, Bobrie G, Landais P, Goldfarb B, Grunfeld J. Renal prognosis in Alport\u2019s and related syndromes: influence of the mode of inheritance. Nephrol Dial Transpl. 1989;4:1016\u201321.","journal-title":"Nephrol Dial Transpl"},{"issue":"3","key":"735_CR28","first-page":"320","volume":"17","author":"M Kharrat","year":"2006","unstructured":"Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H. Autosomal dominant Alport\u2019s syndrome: study of a large Tunisian family. Saudi J Kidney Dis Transpl. 2006;17(3):320\u20135.","journal-title":"Saudi J Kidney Dis Transpl"},{"key":"735_CR29","doi-asserted-by":"crossref","unstructured":"Lennon R, Stuart HM, Bierzynska A, Randles MJ, Kerr B, Hillman A, et al. Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease. Pediatr Nephrol. 2015;30(9):1459\u201365.","DOI":"10.1007\/s00467-015-3067-9"},{"key":"735_CR30","doi-asserted-by":"publisher","unstructured":"Cheungpasitporn W, Kaewpoowat Q, Suksaranjit P, Kittanamongkolchai W, Srivali N, Ungprasert P, et al. Autosomal Dominant Alport Syndrome Presenting as Proteinuria at Marine Corps Physical Fitness Test: A Case Report and Review. J Nephrol Ther. 2012;S8:001. doi: 10.4172\/2161-0959.S8-001 .","DOI":"10.4172\/2161-0959.S8-001"},{"issue":"2","key":"735_CR31","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/S0272-6386(96)90540-5","volume":"27","author":"EP Cohen","year":"1996","unstructured":"Cohen EP, Lemann J. Hereditary nephritis angiotensin-converting enzyme inhibition decreases proteinuria and may slow the rate of progression. Am J Kidney Dis. 1996;27(2):199\u2013203.","journal-title":"Am J Kidney Dis"},{"issue":"8","key":"735_CR32","doi-asserted-by":"crossref","first-page":"2521","DOI":"10.1093\/ndt\/gfq797","volume":"26","author":"NJA Webb","year":"2011","unstructured":"Webb NJA, Lam C, Shahinfar S, Strehlau J, Wells TG, Gleim GW, et al. Efficacy and safety of losartan in children with Alport syndrome--results from a subgroup analysis of a prospective, randomized, placebo- or amlodipine-controlled trial. Nephrol Dial Transplant. 2011;26(8):2521\u20136.","journal-title":"Nephrol Dial Transplant"},{"issue":"7","key":"735_CR33","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1007\/s00467-010-1484-3","volume":"25","author":"L Massella","year":"2010","unstructured":"Massella L, Muda AO, Legato A, Di Zazzo G, Giannakakis K, Emma F, Cyclosporine A. Treatment in patients with Alport syndrome: a single-center experience. Pediatr Nephrol. 2010;25(7):1269\u201375.","journal-title":"Pediatr Nephrol"},{"issue":"2","key":"735_CR34","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/s00467-005-2095-2","volume":"21","author":"S Fujinaga","year":"2006","unstructured":"Fujinaga S, Kaneko K, Ohtomo Y, Murakami H, Takemoto M, Takada M, et al. Thin basement membrane nephropathy associated with minimal change disease in a 15-year-old boy. Pediatr Nephrol. 2006;21(2):277\u201380.","journal-title":"Pediatr Nephrol"},{"issue":"12","key":"735_CR35","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1038\/sj.ki.5002221","volume":"71","author":"M Slajpah","year":"2007","unstructured":"Slajpah M, Gorinsek B, Berginc G, Vizjak A, Ferluga D, Hvala A, et al. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney Int. 2007;71(12):1287\u201395.","journal-title":"Kidney Int"},{"issue":"8","key":"735_CR36","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1007\/s00467-010-1467-4","volume":"25","author":"J Hoefele","year":"2010","unstructured":"Hoefele J, Lange-Sperandio B, Ruessmann D, Gl\u00f6ckner-Pagel J, Alberer M, Benz MR, et al. Novel heterozygous COL4A3 mutation in a family with late-onset ESRD. Pediatr Nephrol. 2010;25(8):1539\u201342.","journal-title":"Pediatr Nephrol"}],"container-title":["BMC Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-017-0735-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,5]],"date-time":"2022-08-05T23:25:16Z","timestamp":1659741916000},"score":1,"resource":{"primary":{"URL":"http:\/\/bmcnephrol.biomedcentral.com\/articles\/10.1186\/s12882-017-0735-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,31]]},"references-count":36,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["735"],"URL":"https:\/\/doi.org\/10.1186\/s12882-017-0735-y","relation":{},"ISSN":["1471-2369"],"issn-type":[{"value":"1471-2369","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10,31]]},"article-number":"325"}}