{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T16:18:20Z","timestamp":1778170700619,"version":"3.51.4"},"reference-count":41,"publisher":"Public Library of Science (PLoS)","issue":"6","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002803","name":"Fondazione Cariplo","doi-asserted-by":"publisher","award":["2013-0825"],"award-info":[{"award-number":["2013-0825"]}],"id":[{"id":"10.13039\/501100002803","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP11177"],"award-info":[{"award-number":["GGP11177"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0178630","type":"journal-article","created":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T17:50:25Z","timestamp":1496339425000},"page":"e0178630","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":22,"title":["Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis"],"prefix":"10.1371","volume":"12","author":[{"given":"Chiara","family":"Chiereghin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michela","family":"Robusto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Mastrangelo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierangela","family":"Castorina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Montini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marisa","family":"Giani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Duga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5351-0619","authenticated-orcid":true,"given":"Rosanna","family":"Asselta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Sold\u00e0","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2017,6,1]]},"reference":[{"issue":"9","key":"ref1","doi-asserted-by":"crossref","DOI":"10.1038\/ejhg.2014.254","article-title":"Clinical utility gene card for: Alport syndrome\u2014update 2014","volume":"23","author":"JM Hertz","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"ref2","article-title":"Alport Syndrome and Thin Basement Membrane Nephropathy","author":"CE Kashtan","year":"2001","journal-title":"GeneReviews"},{"issue":"3","key":"ref3","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":"MA Mencarelli","year":"2015","journal-title":"J Med Genet"},{"issue":"8","key":"ref4","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1038\/nrneph.2016.87","article-title":"The expanding phenotypic spectra of kidney diseases: insights from genetic studies","volume":"12","author":"MF Stokman","year":"2016","journal-title":"Nat Rev Nephrol"},{"issue":"6","key":"ref5","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#","article-title":"The clinical spectrum of type IV collagen mutations","volume":"9","author":"HH Lemmink","year":"1997","journal-title":"Hum Mutat"},{"issue":"4","key":"ref6","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1007\/s00467-011-2084-6","article-title":"Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria","volume":"27","author":"K Voskarides","year":"2012","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"ref7","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1038\/ejhg.2011.164","article-title":"Advances in Alport syndrome diagnosis using next-generation sequencing","volume":"20","author":"R Artuso","year":"2012","journal-title":"Eur J Hum Genet"},{"issue":"12","key":"ref8","doi-asserted-by":"crossref","first-page":"2740","DOI":"10.1681\/ASN.2013080912","article-title":"Improving mutation screening in familial hematuric nephropathies through next generation sequencing","volume":"25","author":"V Morini\u00e8re","year":"2014","journal-title":"J Am Soc Nephrol"},{"issue":"3","key":"ref9","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":"C Fallerini","year":"2014","journal-title":"Clin Genet"},{"issue":"10","key":"ref10","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1016\/j.bbadis.2014.06.015","article-title":"Next generation sequencing technology: Advances and applications","volume":"1842","author":"HP Buermans","year":"2014","journal-title":"Biochim Biophys Acta"},{"issue":"14","key":"ref11","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"H Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"5","key":"ref12","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"MA DePristo","year":"2011","journal-title":"Nat Genet"},{"issue":"9","key":"ref13","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1101\/gr.092619.109","article-title":"Identification of deleterious mutations within three human genomes","volume":"19","author":"S Chun","year":"2009","journal-title":"Genome Res"},{"issue":"4","key":"ref14","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.ajhg.2011.03.004","article-title":"Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel","volume":"88","author":"A Gonz\u00e1lez-P\u00e9rez","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"17","key":"ref15","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1093\/nar\/gkr407","article-title":"Predicting the functional impact of protein mutations: application to cancer genomics","volume":"39","author":"B Reva","year":"2011","journal-title":"Nucleic Acids Res"},{"issue":"Web Server issue","key":"ref16","doi-asserted-by":"crossref","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: predicting effects of amino acid substitutions on proteins","volume":"40","author":"NL Sim","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"ref17","first-page":"Unit7.20","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","volume":"Chapter 7","author":"I Adzhubei","year":"2013","journal-title":"Curr Protoc Hum Genet"},{"issue":"1","key":"ref18","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/humu.22225","article-title":"Predicting the Functional, Molecular and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models","volume":"34","author":"HA Shihab","year":"2013","journal-title":"Hum Mutat"},{"issue":"3","key":"ref19","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"M Kircher","year":"2014","journal-title":"Nat Genet"},{"issue":"4","key":"ref20","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"JM Schwarz","year":"2014","journal-title":"Nat Methods"},{"issue":"16","key":"ref21","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Y Choi","year":"2015","journal-title":"Bioinformatics"},{"issue":"1","key":"ref22","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.gene.2013.11.102","article-title":"Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II","volume":"537","author":"V Rimoldi","year":"2014","journal-title":"Gene"},{"issue":"12","key":"ref23","doi-asserted-by":"crossref","first-page":"2291","DOI":"10.1681\/ASN.V9122291","article-title":"High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing","volume":"9","author":"P Martin","year":"1998","journal-title":"J Am Soc Nephrol"},{"issue":"2","key":"ref24","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":"JM Hertz","year":"2001","journal-title":"Hum Mutat"},{"issue":"6","key":"ref25","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1046\/j.1523-1755.2002.00379.x","article-title":"COL4A3\/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome","volume":"61","author":"I Longo","year":"2002","journal-title":"Kidney Int"},{"issue":"5","key":"ref26","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/j.ajkd.2003.08.002","article-title":"Autosomal recessive Alport&apos;s syndrome and benign familial hematuria are collagen type IV diseases","volume":"42","author":"B Taz\u00f3n Vega","year":"2003","journal-title":"Am J Kidney Dis"},{"issue":"9","key":"ref27","doi-asserted-by":"crossref","first-page":"2188","DOI":"10.1002\/ajmg.a.35528","article-title":"Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome","volume":"158A","author":"Y Zhang","year":"2012","journal-title":"Am J Med Genet A"},{"issue":"2","key":"ref28","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/cge.12247","article-title":"A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population","volume":"86","author":"BD Webb","year":"2014","journal-title":"Clin Genet"},{"key":"ref29","article-title":"Practice guidelines for Sanger Sequencing Analysis and Interpretation","author":"S Ellard","year":"2016"},{"issue":"7497","key":"ref30","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/nature13127","article-title":"Guidelines for investigating causality of sequence variants in human disease","volume":"508","author":"DG MacArthur","year":"2014","journal-title":"Nature"},{"issue":"1","key":"ref31","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1186\/s12920-016-0216-3","article-title":"Explorations to improve the completeness of exome sequencing","volume":"9","author":"C Du","year":"2016","journal-title":"BMC Med Genomics"},{"issue":"10","key":"ref32","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1038\/ejhg.2016.63","article-title":"Guidelines for diagnostic next-generation sequencing","volume":"24","author":"G Matthijs","year":"2016","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"ref33","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1186\/1479-7364-4-5-284","article-title":"Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes","volume":"4","author":"DN Cooper","year":"2010","journal-title":"Hum Genomics"},{"issue":"6","key":"ref34","doi-asserted-by":"crossref","first-page":"1706","DOI":"10.1016\/j.jaci.2016.05.030","article-title":"Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG\/NEMO","volume":"138","author":"SE J\u00f8rgensen","year":"2016","journal-title":"J Allergy Clin Immunol"},{"issue":"8","key":"ref35","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1002\/humu.22101","article-title":"Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico\/in vitro studies on BRCA1 and BRCA2 variants","volume":"33","author":"C Houdayer","year":"2012","journal-title":"Hum Mutat"},{"issue":"2","key":"ref36","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1101\/gr.182899.114","article-title":"Genome-wide discovery of human splicing branchpoints","volume":"25","author":"TR Mercer","year":"2015","journal-title":"Genome Res"},{"issue":"4","key":"ref37","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/j.cell.2009.02.009","article-title":"The spliceosome: design principles of a dynamic RNP machine","volume":"136","author":"MC Wahl","year":"2009","journal-title":"Cell"},{"issue":"8","key":"ref38","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1002\/humu.20362","article-title":"Phenotypic consequences of branch point substitutions","volume":"27","author":"J Kr\u00e1lovicov\u00e1","year":"2006","journal-title":"Hum Mutat"},{"issue":"5","key":"ref39","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1182\/blood-2009-04-218016","article-title":"Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts","volume":"115","author":"D.F. Bishop","year":"2010","journal-title":"Blood"},{"issue":"3","key":"ref40","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1002\/humu.22252","article-title":"Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome","volume":"34","author":"E Aten","year":"2013","journal-title":"Hum Mutat"},{"key":"ref41","article-title":"Machine learning annotation of human splicing branchpoints","author":"B Signal","year":"2016","journal-title":"BioRxiv"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0178630","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,29]],"date-time":"2022-07-29T01:51:20Z","timestamp":1659059480000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0178630"}},"subtitle":[],"editor":[{"given":"Emanuele","family":"Buratti","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2017,6,1]]},"references-count":41,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2017,6,1]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0178630","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,6,1]]}}}