作者: Isabel Hernández-Porras , Beatriz Jiménez-Catalán , Alberto J Schuhmacher , Carmen Guerra
DOI: 10.1080/21675511.2015.1045169
关键词: Genetics 、 Myeloproliferative Disorders 、 Germline 、 Noonan syndrome 、 Short stature 、 Allele 、 Penetrance 、 Genetic disorder 、 Phenotype 、 Biology
摘要: 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 these defects varies considerably among patients. In this study, we have examined the effect 2 genetic backgrounds (C57BL/6J.OlaHsd 129S2/SvPasCrl) on phenotypes displayed a mouse model NS induced germline expression mutated K-RasV14I allele, one most frequent NS-KRAS mutations. Our results suggest presence modifiers associated to background that are essential for development function at early stages postnatal life as well in severity haematopoietic alterations.