The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I)

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....

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Autores principales: Hernández-Porras, Isabel, Jiménez-Catalán, Beatriz, Schuhmacher, Alberto J, Guerra, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2015
Materias:
Addendum
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4590006/
https://www.ncbi.nlm.nih.gov/pubmed/26458870
http://dx.doi.org/10.1080/21675511.2015.1045169
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author Hernández-Porras, Isabel
Jiménez-Catalán, Beatriz
Schuhmacher, Alberto J
Guerra, Carmen
author_facet Hernández-Porras, Isabel
Jiménez-Catalán, Beatriz
Schuhmacher, Alberto J
Guerra, Carmen
author_sort Hernández-Porras, Isabel
collection PubMed
description 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.
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spelling pubmed-45900062016-02-03 The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I) Hernández-Porras, Isabel Jiménez-Catalán, Beatriz Schuhmacher, Alberto J Guerra, Carmen Rare Dis Addendum 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. Taylor & Francis 2015-05-22 /pmc/articles/PMC4590006/ /pubmed/26458870 http://dx.doi.org/10.1080/21675511.2015.1045169 Text en © 2015 The Author(s). Published with license by Taylor & Francis Group, LLC http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. The moral rights of the named author(s) have been asserted.
spellingShingle Addendum
Hernández-Porras, Isabel
Jiménez-Catalán, Beatriz
Schuhmacher, Alberto J
Guerra, Carmen
The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I)
title The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I)
title_full The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I)
title_fullStr The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I)
title_full_unstemmed The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I)
title_short The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I)
title_sort impact of the genetic background in the noonan syndrome phenotype induced by k-ras(v14i)
topic Addendum
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4590006/
https://www.ncbi.nlm.nih.gov/pubmed/26458870
http://dx.doi.org/10.1080/21675511.2015.1045169
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