努南综合征。
Noonan syndrome.
机构信息
Department of Cardiology and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA.
出版信息
Lancet. 2013 Jan 26;381(9863):333-42. doi: 10.1016/S0140-6736(12)61023-X. Epub 2013 Jan 10.
Abstract
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype-phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments.
摘要
努南综合征是一种遗传性多系统疾病，其特征为独特的面部特征、发育迟缓、学习困难、身材矮小、先天性心脏病、肾脏异常、淋巴管畸形和出血困难。导致努南综合征的突变改变了编码在 RAS-MAPK 通路中起作用的蛋白质的基因，导致通路失调。已经制定了管理指南。几种与临床相关的基因型-表型相关性有助于风险评估和患者管理。对疾病病理生理学的深入了解可能有助于开发药理学治疗方法。
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Proc Natl Acad Sci U S A. 2012 Mar 13;109(11):4257-62. doi: 10.1073/pnas.1119803109. Epub 2012 Feb 27.
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Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.Noonan 综合征伴 PTPN11 突变患者的癌症风险。
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