{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:47:41Z","timestamp":1790423261602,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,25]],"date-time":"2020-10-25T00:00:00Z","timestamp":1603584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Early initiation of therapy in patients with Alport syndrome (AS) slows down renal failure by many years. Genotype\u2013phenotype correlations propose that the location and character of the individual's variant correlate with the renal outcome and any extra renal manifestations. In\u2010depth clinical and genetic data of 60\/62 children who participated in the EARLY PRO\u2010TECT Alport trial were analyzed. Genetic variants were interpreted according to current guidelines and criteria. Genetically solved patients with X\u2010linked inheritance were then classified according to the severity of their\n                    <jats:italic>COL4A5<\/jats:italic>\n                    variant into less\u2010severe, intermediate, and severe groups and disease progress was compared. Almost 90% of patients were found to carry (likely) pathogenic variants and classified as genetically solved cases. Patients in the less\u2010severe group demonstrated a borderline significant difference in disease progress compared to those in the severe group (\n                    <jats:italic>p<\/jats:italic>\n                    = 0.05). While having only limited power according to its sample size, an obvious strength is the precise clinical and genetic data of this well ascertained cohort. As in published data differences in clinical progress were shown between patients with\n                    <jats:italic>COL4A5<\/jats:italic>\n                    less\u2010severe and severe variants. Therefore, clinical and segregational data are important for variant (re)classification. Genetic testing should be mandatory allowing early diagnosis and therapy of AS.\n                  <\/jats:p>","DOI":"10.1111\/cge.13861","type":"journal-article","created":{"date-parts":[[2020,10,11]],"date-time":"2020-10-11T04:02:19Z","timestamp":1602388939000},"page":"143-156","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Precise variant interpretation, phenotype ascertainment, and genotype\u2013phenotype correlation of children in the\n                    <scp>EARLY PRO\u2010TECT<\/scp>\n                    Alport trial"],"prefix":"10.1111","volume":"99","author":[{"given":"Jan","family":"Boeckhaus","sequence":"first","affiliation":[{"name":"Clinic for Nephrology and Rheumatology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7917-7129","authenticated-orcid":false,"given":"Julia","family":"Hoefele","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikumrechts der Isar Technical University of Munich, School of Medicine  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Korbinian M.","family":"Riedhammer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikumrechts der Isar Technical University of Munich, School of Medicine  Munich Germany"},{"name":"Department of Nephrology, Klinikumrechts der Isar Technical University of Munich, School of Medicine  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burkhard","family":"T\u00f6nshoff","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I University Children's Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasmus","family":"Ehren","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, Children's and Adolescents' Hospital University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Pape","sequence":"additional","affiliation":[{"name":"Department of Pediatric Kidney, Liver and Metabolic Diseases Hannover Medical School  Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kay","family":"Latta","sequence":"additional","affiliation":[{"name":"Clementine Kinderhospital Frankfurt  Frankfurt Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Fehrenbach","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Children's Hospital  Memmingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baerbel","family":"Lange\u2010Sperandio","sequence":"additional","affiliation":[{"name":"Dr. v. HaunerChildren's Hospital Ludwig Maximilians University  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Kettwig","sequence":"additional","affiliation":[{"name":"Clinic of Pediatrics and Adolescent Medicine University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Hoyer","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, Pediatrics II University of Duisburg\u2010Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hagen","family":"Staude","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology University Children's Hospital Rostock  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Konrad","sequence":"additional","affiliation":[{"name":"University Children's Hospital M\u00fcnster  M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"John","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology University Children's Hospital  Jena Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jutta","family":"Gellermann","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Charit\u00e9 Children's Hospital  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Hoppe","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Department of Pediatrics University of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Galiano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Hospital, Friedrich\u2010Alexander\u2010University Erlangen  Erlangen 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