努南综合征中的NRAS突变
NRAS Mutations in Noonan Syndrome.
作者信息
Denayer E, Peeters H, Sevenants L, Derbent M, Fryns J P, Legius E
机构信息
Departments of Human Genetics Catholic University of Leuven, Leuven, Belgium.
出版信息
Mol Syndromol. 2012 Jun;3(1):34-38. doi: 10.1159/000338467. Epub 2012 May 3.
Abstract
Noonan syndrome is a genetically heterogeneous disorder caused by mutations in PTPN11, SOS1, RAF1 and less frequently in KRAS, NRAS or SHOC2. Here, we performed mutation analysis of NRAS and SHOC2 in 115 PTPN11, SOS1, RAF1, and KRAS mutation-negative individuals. No SHOC2 mutations were found, but we identified 3 NRAS mutations in 3 probands. One NRAS mutation was novel. The phenotype associated with germline NRAS mutations is variable. Our results confirm that a small proportion of Noonan syndrome patients carry germline NRAS mutations.
摘要
努南综合征是一种基因异质性疾病，由PTPN11、SOS1、RAF1基因突变引起，较少由KRAS、NRAS或SHOC2基因突变引起。在此，我们对115名PTPN11、SOS1、RAF1和KRAS基因突变阴性个体进行了NRAS和SHOC2基因突变分析。未发现SHOC2基因突变，但我们在3名先证者中鉴定出3个NRAS基因突变。其中一个NRAS基因突变是新发现的。与种系NRAS基因突变相关的表型是可变的。我们的结果证实，一小部分努南综合征患者携带种系NRAS基因突变。
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