{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T18:22:23Z","timestamp":1790878943034,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,10,17]],"date-time":"2013-10-17T00:00:00Z","timestamp":1381968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Telethon Network of Genetic Biobanks","award":["GTB12001"],"award-info":[{"award-number":["GTB12001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:p>\n                    The mode of inheritance of Alport syndrome (ATS) has long been controversial. In 1927, the disease was hypothesized as a dominant condition in which males were more severely affected than females. In 1990, it was considered an X\u2010linked (XL) semidominant condition, due to\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">COL4A5<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations. Later on, a rare autosomal recessive (AR) form due to\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">COL4A3<\/jats:styled-content>\n                      \/\n                      <jats:styled-content style=\"fixed-case\">COL4A4<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations was identified. An autosomal dominant (AD) form was testified more recently by the description of some large pedigrees but the real existence of this form is still questioned by many and its exact prevalence is unknown. The introduction of next generation sequencing (NGS) allowed us to perform an unbiased simultaneous\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">COL4A3\u2010COL4A4\u2010COL4A5<\/jats:styled-content>\n                    <\/jats:italic>\n                    analysis in 87 Italian families (273 individuals) with clinical suspicion of ATS. In 48 of them (55%), a mutation in one of the three genes was identified: the inheritance was XL semidominant in 65%, recessive in 4% and most interestingly AD in 31% (15 families). The AD form must therefore be seriously taken into account in all pedigrees with affected individuals in each generation. Furthermore, a high frequency of mutations (&gt;50%) was shown in patients with only 1 or 2 clinical criteria, suggesting NGS as first\u2010level analysis in cases with a clinical suspicion of ATS.\n                  <\/jats:p>","DOI":"10.1111\/cge.12258","type":"journal-article","created":{"date-parts":[[2013,9,4]],"date-time":"2013-09-04T13:15:24Z","timestamp":1378300524000},"page":"252-257","source":"Crossref","is-referenced-by-count":128,"title":["Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases"],"prefix":"10.1111","volume":"86","author":[{"given":"C.","family":"Fallerini","sequence":"first","affiliation":[{"name":"Medical Genetics University of Siena  Siena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Dosa","sequence":"additional","affiliation":[{"name":"Medical Genetics University of Siena  Siena Italy"},{"name":"Genetica Medica Azienda Ospedaliera Universitaria Senese  Siena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Tita","sequence":"additional","affiliation":[{"name":"Medical Genetics University of Siena  Siena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Del Prete","sequence":"additional","affiliation":[{"name":"Department of Medicine, Nephrology Clinic University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Feriozzi","sequence":"additional","affiliation":[{"name":"Nephrology and Dialysis Unit Hospital Belcolle  Viterbo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Gai","sequence":"additional","affiliation":[{"name":"S.C. 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City of Health and Science  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Clementi","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Woman &amp; Child Health University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"La Manna","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Second University of Napoli  Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Miglietti","sequence":"additional","affiliation":[{"name":"Nephrology DH Pediatric Clinic of the University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Mancini","sequence":"additional","affiliation":[{"name":"Genetica Medica Azienda Ospedaliera Universitaria Senese  Siena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Mandrile","sequence":"additional","affiliation":[{"name":"Medical Genetics, San Luigi University Hospital  Orbassano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.M.","family":"Ghiggeri","sequence":"additional","affiliation":[{"name":"Nephrology Dialysis and Transplantation Unit Institute \u201cG Gaslini\u201d  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Piaggio","sequence":"additional","affiliation":[{"name":"Nephrology Dialysis and Transplantation Unit Institute \u201cG Gaslini\u201d  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Brancati","sequence":"additional","affiliation":[{"name":"Medical Genetics University Hospital \u201cTor Vergata\u201d  Roma Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Diano","sequence":"additional","affiliation":[{"name":"Medical Genetics University Hospital \u201cTor Vergata\u201d  Roma Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Frate","sequence":"additional","affiliation":[{"name":"Medical Genetics Azienda Unita Locale Socio\u2010Sanitaria n\u00b0 9  Treviso Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.R.","family":"Pinciaroli","sequence":"additional","affiliation":[{"name":"Nephrology and Dialysis S.O.C., Department of General Medicine and Medical Specialties \u201cGiuseppe Spada\u201d A.O. Pugliese\u2010Ciaccio  Catanzaro Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Giani","sequence":"additional","affiliation":[{"name":"U.O.C. Pediatric Nephrology and Hemodialysis, U.O.C. Nephrology, Dialysis and Renal Transplantation, Audiology Unit Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policilinico  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Castorina","sequence":"additional","affiliation":[{"name":"U.O.C. Pediatric Nephrology and Hemodialysis, U.O.C. Nephrology, Dialysis and Renal Transplantation, Audiology Unit Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policilinico  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Bresin","sequence":"additional","affiliation":[{"name":"I.R.C.C.S., Istituto di Ricerche Farmacologiche Mario Negri Clinical Research Center for Rare Diseases \u201cAldo e Cele Dacc\u00f2\u201d  Ranica (BG) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Giachino","sequence":"additional","affiliation":[{"name":"Medical Genetics, San Luigi University Hospital  Orbassano Italy"},{"name":"University of Torino Dept. Clinical &amp; Biological Sciences  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"De Marchi","sequence":"additional","affiliation":[{"name":"Medical Genetics, San Luigi University Hospital  Orbassano Italy"},{"name":"University of Torino Dept. 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