基因背景对由K-Ras（V14I）诱导的努南综合征表型的影响。
The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).
作者信息
Hernández-Porras Isabel, Jiménez-Catalán Beatriz, Schuhmacher Alberto J, Guerra Carmen
机构信息
Molecular Oncology; Centro Nacional de Investigaciones Oncológicas (CNIO) ; Madrid, Spain.
出版信息
Rare Dis. 2015 May 22;3(1):e1045169. doi: 10.1080/21675511.2015.1045169. eCollection 2015.
Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by short stature, craniofacial dysmorphism, and congenital heart defects. A significant fraction of NS-patients also develop myeloproliferative disorders. The penetrance of these defects varies considerably among patients. In this study, we have examined the effect of 2 genetic backgrounds (C57BL/6J.OlaHsd and 129S2/SvPasCrl) on the phenotypes displayed by a mouse model of NS induced by germline expression of the mutated K-Ras (V14I) allele, one of the most frequent NS-KRAS mutations. Our results suggest the presence of genetic modifiers associated to the genetic background that are essential for heart development and function at early stages of postnatal life as well as in the severity of the haematopoietic alterations.
努南综合征（NS）是一种常染色体显性遗传病，其特征为身材矮小、颅面畸形和先天性心脏缺陷。相当一部分NS患者还会发展为骨髓增殖性疾病。这些缺陷在患者中的外显率差异很大。在本研究中，我们研究了两种遗传背景（C57BL/6J.OlaHsd和129S2/SvPasCrl）对由突变K-Ras（V14I）等位基因的种系表达诱导的NS小鼠模型所表现出的表型的影响，该等位基因是最常见的NS-KRAS突变之一。我们的结果表明，存在与遗传背景相关的遗传修饰因子，这些因子对于出生后早期心脏发育和功能以及造血改变的严重程度至关重要。
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