{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T10:58:44Z","timestamp":1780484324816,"version":"3.54.1"},"reference-count":31,"publisher":"JLE","issue":"3","license":[{"start":{"date-parts":[[2013,9,3]],"date-time":"2013-09-03T00:00:00Z","timestamp":1378166400000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/www.edpsciences.org\/en\/authors\/copyright-and-licensing"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orthod Fr"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:p><jats:bold>D\u00e9finition<\/jats:bold><jats:bold>:<\/jats:bold>Le \u00ab\u00a0d\u00e9faut primaire d\u2019\u00e9ruption\u00a0\u00bb (DPE), parfois aussi appel\u00e9 \u00ab\u00a0\u00e9chec primaire d\u2019\u00e9ruption\u00a0\u00bb, d\u00e9signe l\u2019absence d\u2019\u00e9ruption partielle ou totale d\u2019un germe non-ankylos\u00e9. Elle est due \u00e0 une perturbation du m\u00e9canisme d\u2019\u00e9ruption. Le processus mol\u00e9culaire conduisant \u00e0 ce dysfonctionnement n\u2019est pas connu \u00e0 ce jour.<jats:bold>\u00c9chantillon et m\u00e9thodes :<\/jats:bold>Quatre familles ont \u00e9t\u00e9 \u00e9tudi\u00e9es. Dans chacune, au moins deux individus \u00e9taient affect\u00e9s d\u2019un d\u00e9faut primaire d\u2019\u00e9ruption (DPE) non syndromique. Un diagnostic radiologique (panoramique) a \u00e9t\u00e9 conduit sur tous les patients et les membres de leur famille qui n\u2019\u00e9taient pas affect\u00e9s (groupe contr\u00f4le). L\u2019analyse g\u00e9n\u00e9tique comprenait une analyse de liens pang\u00e9nomique suivie d\u2019un s\u00e9quen\u00e7age direct de l\u2019ADN avec une cartographie des g\u00e8nes candidats positionnels.<jats:bold>R\u00e9sultats :<\/jats:bold>En partant des patients affect\u00e9s, nous sommes parvenus \u00e0 reconstituer des p\u00e9digr\u00e9es sur deux ou trois g\u00e9n\u00e9rations dans les familles avec une transmission du d\u00e9faut primaire d\u2019\u00e9ruption non syndromique selon un mode autosomique dominant. Quinze patients atteints de DPE ont \u00e9t\u00e9 diagnostiqu\u00e9s. La distribution selon le genre s\u2019est r\u00e9v\u00e9l\u00e9e pratiquement \u00e9gale (7 femmes et 8 hommes). L\u2019analyse g\u00e9n\u00e9tique mol\u00e9culaire du g\u00e8ne PTHR1 r\u00e9v\u00e8le trois mutations h\u00e9t\u00e9rozygotes (c.1050-3C&gt;G ; c.543\u00a0+\u00a01G&gt;A ; c.463G&gt;T). Aucune mutation n\u2019a \u00e9t\u00e9 trouv\u00e9e chez les personnes non affect\u00e9es.<jats:bold>Conclusion :<\/jats:bold>La connaissance des causes g\u00e9n\u00e9tiques du DPE non syndromique peut maintenant \u00eatre utilis\u00e9e pour effectuer un diagnostic diff\u00e9rentiel en cas de d\u00e9faut d\u2019\u00e9ruption. Elle permet d\u2019identifier tr\u00e8s t\u00f4t les membres d\u2019une famille qui sont touch\u00e9s et pourrait, \u00e0 long terme, d\u00e9boucher sur de nouvelles possibilit\u00e9s de traitement. Le diagnostic g\u00e9n\u00e9tiquement valid\u00e9 de d\u00e9faut primaire d\u2019\u00e9ruption peut soustraire les patients et leurs orthodontistes \u00e0 des ann\u00e9es de tentatives de tractions vou\u00e9es \u00e0 l\u2019\u00e9chec, car le traitement orthodontique seul n\u2019est pas une solution valable. Au contraire, il produit des effets iatrog\u00e8nes sur les dents d\u2019ancrage non affect\u00e9es et sur les maxillaires.<\/jats:p>","DOI":"10.1051\/orthodfr\/2013055","type":"journal-article","created":{"date-parts":[[2013,9,2]],"date-time":"2013-09-02T10:38:17Z","timestamp":1378118297000},"page":"241-250","source":"Crossref","is-referenced-by-count":6,"title":["D\u00e9faut primaire d\u2019\u00e9ruption (DPE). 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