Biallelic LZTR1 mutations activate RAS- MAPK signaling and cause hypertrophic cardiomyopathy in iPSC-derived cardiomyocytes of a novel type of noonan syndrome
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Media type:
E-Book;
Thesis
Title:
Biallelic LZTR1 mutations activate RAS- MAPK signaling and cause hypertrophic cardiomyopathy in iPSC-derived cardiomyocytes of a novel type of noonan syndrome
University thesis:
Dissertation, Georg-August-Universität Göttingen, 2023
Footnote:
Description:
Noonan syndrome is a multisystemic disorder with variable expressivity, characterized by typical craniofacial features, physical and mental retardation with cardiovascular abnormalities. Noonan syndrome is the most common mono-genetic congenital heart disease and manifests as pulmonary valve stenosis, atrial and/or ventricular septum defect, and hypertrophic cardiomyopathy. In most cases, Noonan syndrome is caused by autosomal dominant germline mutations leading to hyperactivity of the RAS-MAPK pathway. Despite the epidemiological relevance, the understanding of variable expressivity, patho...