Question 912
{"accessible":false,"alternatives":[{"id":4584,"text":"cardiofaciocutaneous syndrome"},{"id":4585,"text":"Costello syndrome"},{"id":4586,"text":"neurofibromatosis type 1"},{"id":4587,"text":"neurofibromatosis type 2"},{"id":4588,"text":"Noonan syndrome"}],"archived":false,"correctAlternativeId":4587,"explanation":"\u003cp\u003e\u003ca title=\"RASopathies\" class=\"internal\" href=\"/articles/rasopathies\"\u003eRASopathies\u003c/a\u003e\u0026nbsp;are a large and common (incidence ~ 1/1,000) class of developmental disorders caused by germline mutations in genes that encode for components or regulators of the Ras/mitogen activated protein kinase (MAPK) pathway.\u0026nbsp;The Ras/MAPK pathway plays an essential role in the control of the cell cycle and cell differentiation, and thus, over-activation\u0026nbsp;of this pathway has the potential to cause significant developmental issues. The pathway is complex, however mutations to different genes that encode for various proteins involved in the Ras/MAPK pathway can result in its inappropriate over-activation.\u0026nbsp;\u003c/p\u003e\u003cp\u003eOf the available options,\u0026nbsp;\u003ca title=\"cardiofaciocutaneous syndrome\" class=\"internal\" href=\"/articles/cardiofaciocutaneous-syndrome\"\u003ecardiofaciocutaneous syndrome\u003c/a\u003e,\u0026nbsp;\u003ca title=\"Costello syndrome\" class=\"internal\" href=\"/articles/costello-syndrome\"\u003eCostello syndrome\u003c/a\u003e,\u0026nbsp;\u003ca title=\"neurofibromatosis type 1\" class=\"internal\" href=\"/articles/neurofibromatosis-type-1\"\u003eneurofibromatosis type 1\u003c/a\u003e, and\u0026nbsp;\u003ca title=\"Noonan syndrome\" class=\"internal\" href=\"/articles/noonan-syndrome\"\u003eNoonan syndrome\u003c/a\u003e all have autosomal dominant germline mutations affecting various aspects of the Ras/MAPK pathway. \u003ca title=\"Neurofibromatosis type 2\" class=\"internal\" href=\"/articles/neurofibromatosis-type-2-3\"\u003eNeurofibromatosis type 2\u003c/a\u003e is another autosomal dominant disorder, however\u0026nbsp;it affects the\u0026nbsp;\u003cem\u003eNF2\u003c/em\u003e\u0026nbsp;gene which encodes for\u0026nbsp;merlin (or schwannomin), a tumor suppressor that is not known to affect the Ras/MAPK pathway.\u0026nbsp;\u003c/p\u003e","id":912,"imageUrl":null,"imageAttribution":null,"imageAttributionCaseInfo":null,"firstQuestionPath":"/questions/912","nextQuestionPath":null,"relatedArticles":[{"id":4967,"title":"Neurofibromatosis type 2","link":"/articles/neurofibromatosis-type-2-3?lang=us"},{"id":1725,"title":"Neurofibromatosis type 1","link":"/articles/neurofibromatosis-type-1?lang=us"},{"id":11103,"title":"Noonan syndrome","link":"/articles/noonan-syndrome?lang=us"}],"alsoUsedIn":[],"stem":"\u003cp\u003eWhich of the following is\u0026nbsp;\u003cstrong\u003eNOT\u003c/strong\u003e\u0026nbsp;a RASopathy?\u003c/p\u003e","menuLinks":[{"text":"Report problem with question","url":"https://docs.google.com/forms/d/e/1FAIpQLSfO3soWYhOjJ7yErSysyCe5V4A1CqW7WK3rDA7MtAkecMGqNw/viewform?entry.1624461248\u0026entry.553583435=https://radiopaedia.org/questions/912"}],"attemptsPercentages":[{"alternativeId":"4584","percentage":9},{"alternativeId":"4588","percentage":19},{"alternativeId":"4586","percentage":5},{"alternativeId":"4587","percentage":49},{"alternativeId":"4585","percentage":17}],"promptToLogin":false,"questionManager":false,"articleId":"rasopathy"}