Noonan syndrome and clinically related disorders.
Noonan syndrome and clinically related disorders.
复制标题
DOI：
10.1016/j.beem.2010.09.002
复制
发表时间：
2011-02
期刊：
影响因子：
--
通讯作者：
Zenker M
中科院分区：
文献类型：
--
作者：
Tartaglia M;Gelb BD;Zenker M
努南综合征是一种较为常见的临床可变发育障碍。主要特征包括出生后生长迟缓、明显的面部畸形、先天性心脏缺陷和肥厚性心肌病、变异性认知缺陷、骨骼、外胚层和血液异常。努南综合征是一种常染色体显性性状，具有遗传异质性。到目前为止，9个基因（PTPN11、SOS1、KRAS、NRAS、RAF1、BRAF、SHOC2、MEK1和CBL）的杂合突变已被证明是这种疾病或临床相关表型的基础。根据这些最近的发现，现在可以在大约75%的受影响个体中进行分子诊断。受影响的基因编码参与ras -丝裂原活化蛋白激酶（MAPK）信号转导途径的蛋白质，该信号转导途径涉及控制形态决定、器官发生、突触可塑性和生长的几个发育过程。在这里，我们提供了临床方面的概述这种疾病和密切相关的条件，分子机制的潜在发病机制，和主要的基因型-表型相关性。
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations in nine genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 and CBL) have been documented to underlie this disorder or clinically related phenotypes. Based on these recent discoveries, the diagnosis can now be confirmed molecularly in approximately 75% of affected individuals. Affected genes encode for proteins participating in the RAS-mitogen-activated protein kinases (MAPK) signal transduction pathway, which is implicated in several developmental processes controlling morphology determination, organogenesis, synaptic plasticity and growth. Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations.
登录
查看更多内容
影响因子：
30.8
作者：
Cordeddu, Viviana;Di Schiavi, Elia;Pennacchio, Len A.;Ma'ayan, Avi;Sarkozy, Anna;Fodale, Valentina;Cecchetti, Serena;Cardinale, Alessio;Martin, Joel;Schackwitz, Wendy;Lipzen, Anna;Zampino, Giuseppe;Mazzanti, Laura;Digilio, Maria C.;Martinelli, Simone;Flex, Elisabetta;Lepri, Francesca;Bartholdi, Deborah;Kutsche, Kerstin;Ferrero, Giovanni B.;Anichini, Cecilia;Selicorni, Angelo;Rossi, Cesare;Tenconi, Romano;Zenker, Martin;Merlo, Daniela;Dallapiccola, Bruno;Iyengar, Ravi;Bazzicalupo, Paolo;Gelb, Bruce D.;Tartaglia, Marco
通讯作者：
Tartaglia, Marco
DOI：
10.1002/ajmg.1320210307
发表时间：
1985-01-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
ALLANSON, JE;HALL, JG;VANALLEN, MI
通讯作者：
VANALLEN, MI
影响因子：
2
作者：
Cesarini, Laura;Alfieri, Paolo;Zampino, Giuseppe
通讯作者：
Zampino, Giuseppe
影响因子：
20.3
作者：
Chan, RJ;Leedy, MB;Kapur, R
通讯作者：
Kapur, R
DOI：
10.1002/ajmg.c.30138
发表时间：
2007-08-15
影响因子：
3.1
作者：
Allanson, Judith E.
通讯作者：
Allanson, Judith E.