Further Evidence for the Implication of LZTR1, a Gene not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome

摘要: Background: Noonan Syndrome (NS) is a relatively common autosomal dominant condition, caused by germline mutations in different genes involved the RAS MAP Kinase signaling pathway. Although clinically heterogeneous, characteristic findings include typical facial features, short stature, chest deformity and congenital heart diseases. Methods: Here, we present clinical molecular characterization of Tunisian patient with NS. A comprehensive analysis 29 belonging to pathway or encoding for interactors was performed, using targeted next generation sequencing. Results: The results revealed novel pathogenic substitution affecting LZTR1, whose have been described only 5 cases NS. Conclusion: This report supports implication LZTR1 syndrome. Next Generation Sequencing seems suitable method mutation detection genetically heterogeneous syndromes such as