{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T22:12:45Z","timestamp":1787004765609,"version":"build-2736575974"},"reference-count":40,"publisher":"EDP Sciences","issue":"3","license":[{"start":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T00:00:00Z","timestamp":1679356800000},"content-version":"vor","delay-in-days":20,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:p>L\u2019essor de la g\u00e9n\u00e9tique au cours des derni\u00e8res d\u00e9cennies a permis des avanc\u00e9es majeures dans la compr\u00e9hension des m\u00e9canismes conduisant aux maladies r\u00e9nales h\u00e9r\u00e9ditaires. Des premi\u00e8res \u00e9tudes par clonage positionnel jusqu\u2019\u00e0 l\u2019av\u00e8nement du s\u00e9quen\u00e7age \u00e0 haut d\u00e9bit (NGS), les techniques d\u2019analyse du g\u00e9nome sont devenues de plus en plus performantes, avec un niveau de r\u00e9solution extraordinaire. Les prix de s\u00e9quen\u00e7age se sont effondr\u00e9s, passant d\u2019un million de dollars (environ 940 millions d\u2019euros) pour le s\u00e9quen\u00e7age du g\u00e9nome de James Watson en 2008, \u00e0 quelques centaines d\u2019euros pour le s\u00e9quen\u00e7age d\u2019un g\u00e9nome aujourd\u2019hui. Le diagnostic mol\u00e9culaire tient ainsi une place centrale pour le diagnostic des patients et influe sur la prise en charge th\u00e9rapeutique dans de nombreuses situations. Mais si le NGS est un outil performant pour l\u2019identification de variants impliqu\u00e9s dans les maladies, il expose au risque de surinterpr\u00e9tation de certains variants, conduisant \u00e0 des diagnostics erron\u00e9s. Dans cette revue, nous proposons une br\u00e8ve r\u00e9trospective des \u00e9tapes essentielles qui ont conduit aux connaissances actuelles et au d\u00e9veloppement du NGS pour l\u2019\u00e9tude des n\u00e9phropathies h\u00e9r\u00e9ditaires de l\u2019enfant. Nous d\u00e9velopperons ensuite les principales n\u00e9phropathies h\u00e9r\u00e9ditaires et les m\u00e9canismes mol\u00e9culaires sous-jacents.<\/jats:p>","DOI":"10.1051\/medsci\/2023028","type":"journal-article","created":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T05:02:31Z","timestamp":1679374951000},"page":"234-245","source":"Crossref","is-referenced-by-count":1,"title":["Les grandes avanc\u00e9es en n\u00e9phro-g\u00e9n\u00e9tique p\u00e9diatrique"],"prefix":"10.1051","volume":"39","author":[{"given":"Marguerite","family":"Hureaux","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Heidet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Vargas-Poussou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Dorval","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"250","published-online":{"date-parts":[[2023,3,21]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1056\/NEJMoa1806891","volume":"380","author":"Groopman","year":"2019","journal-title":"N Engl J Med"},{"key":"R2","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1093\/ndt\/gfz028","volume":"35","author":"Connaughton","year":"2020","journal-title":"Nephrol Dial Transplant"},{"key":"R3","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1038\/74166","volume":"24","author":"Boute","year":"2000","journal-title":"Nat Genet"},{"key":"R4","doi-asserted-by":"crossref","unstructured":"Kemper MJ, Lemke A. 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