{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T05:48:46Z","timestamp":1695620926428},"reference-count":9,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,6,9]],"date-time":"2015-06-09T00:00:00Z","timestamp":1433808000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2015,7]]},"abstract":"Abstract<\/jats:title>There are current requirements of using genetic databases for offering a better genetic assistance to patients of some syndromes, especially those with X<\/jats:styled-content>\u2010linked heredity patterns (like A<\/jats:styled-content>lport S<\/jats:styled-content>yndrome) for the high probability of having descendants affected by the disease. We describe the first reported case of COL4A5<\/jats:italic><\/jats:styled-content> gene missense c.1499 G<\/jats:styled-content>\u2009>\u2009T<\/jats:styled-content> mutation in a 16\u2010year\u2010old girl confirmed to be affected by A<\/jats:styled-content>lport S<\/jats:styled-content>yndrome after genetic counseling. N<\/jats:styled-content>ext G<\/jats:styled-content>eneration S<\/jats:styled-content>equencing procedures let discover this mutation and offer an accurate clinical treatment to this patient. Current scientific understanding of genetic syndromes suggests the high importance of updated databases and the inclusion of V<\/jats:styled-content>ariant of U<\/jats:styled-content>nknown S<\/jats:styled-content>ignificance related to clinical cases. All of this updating could enable patients to have a better opportunity of diagnosis and having genetic and clinical counseling. This event is even more important in women planning to start a family to have correct genetic counseling regarding the risk posed to offspring, and allowing the decision to undergo prenatal testing.<\/jats:p>","DOI":"10.1111\/nep.12486","type":"journal-article","created":{"date-parts":[[2015,6,11]],"date-time":"2015-06-11T00:22:14Z","timestamp":1433982134000},"page":"502-505","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Improved genetic counseling in A<\/scp>lport syndrome by new variants of COL4A5<\/i><\/scp> gene"],"prefix":"10.1111","volume":"20","author":[{"given":"Francisco","family":"Fernandez\u2010Rosado","sequence":"first","affiliation":[{"name":"LORGEN G.P, S.L., Business Innovation Center \u2013 BIC\/CEEL, Technological area of Health Science Granada Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Campos","sequence":"additional","affiliation":[{"name":"Torrecardenas Hospital, Pediatry and Nephropediatric Service Almeria Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jesus","family":"Alvarez\u2010Cubero","sequence":"additional","affiliation":[{"name":"LORGEN G.P, S.L., Business Innovation Center \u2013 BIC\/CEEL, Technological area of Health Science Granada Spain"},{"name":"Genetic Identification Laboratory, Legal Medicine and Toxicology Department, Medicine Faculty University of Granada Granada Spain"},{"name":"GENYO (Pfizer\u2010University of Granada\u2010Andalusian Government Centre for Genomics and Oncological Research) Granada Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Ruiz","sequence":"additional","affiliation":[{"name":"Torrecardenas Hospital, Pediatry and Nephropediatric Service Almeria Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Entrala\u2010Bernal","sequence":"additional","affiliation":[{"name":"LORGEN G.P, S.L., Business Innovation Center \u2013 BIC\/CEEL, Technological area of Health Science Granada Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,6,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/17.7.1218"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-013-2643-0"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.10.014"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22588"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.01030209"},{"key":"e_1_2_5_8_1","volume-title":"Bioinformatics for Geneticists","author":"Russell RB","year":"2003"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sft144"},{"key":"e_1_2_5_10_1","article-title":"Practice guidelines for the interpretation and reporting of unclassified variants (UVs) in clinical molecular genetics","author":"Bell J","year":"2007","journal-title":"Clin. 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