Prevalence of Sequence Variants in the RAS-Mitogen Activated Protein Kinase Signaling Pathway in Pre-Adolescent Children With Hypertrophic Cardiomyopathy | Zendy

Juan Pablo Kaski | Zendy; Petros Syrris | Zendy; Adam Shaw | Zendy; Krisztina Zuborne Alapi | Zendy; Viviana Cordeddu | Zendy; Maite Tome | Zendy; Sharon Jenkins | Zendy; Michael T. Ashworth | Zendy; Peter Hammond | Zendy; Marco Tartaglia | Zendy; William J. McKenna | Zendy; Perry Elliott | Zendy

Open Access

Prevalence of Sequence Variants in the RAS-Mitogen Activated Protein Kinase Signaling Pathway in Pre-Adolescent Children With Hypertrophic Cardiomyopathy

Author(s) -

Juan Pablo Kaski,

Petros Syrris,

Adam Shaw,

Krisztina Zuborne Alapi,

Viviana Cordeddu,

Maite Tome,

Sharon Jenkins,

Michael T. Ashworth,

Peter Hammond,

Marco Tartaglia,

William J. McKenna,

Perry Elliott

Publication year - 2012

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.111.960468

Subject(s) - protein kinase a , hypertrophic cardiomyopathy , mitogen activated protein kinase , signal transduction , cardiomyopathy , ask1 , kinase , mitogen activated protein kinase kinase , cancer research , biology , medicine , genetics , heart failure

Most cases of apparently idiopathic hypertrophic cardiomyopathy (HCM) in children are caused by mutations in cardiac sarcomere protein genes. HCM also commonly occurs as an associated feature in some patients with disorders caused by mutations in genes encoding components of the RAS-mitogen activated protein kinase (MAPK) signaling pathway. Although diagnosis of these disorders is based on typical phenotypic features, the dysmorphic manifestations can be subtle and therefore overlooked. The aim of this study was to determine the prevalence of mutations in RAS-MAPK genes in preadolescent children with idiopathic HCM.

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