hrp0092p1-376 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Noonan Syndrome (NS) Spectrum Panels should Include Mutations in LZTR1 Gene

Güemes Maria , Martín-Rivada Álvaro , Ortiz-Cabrera Nelmar Valentina , Martos-Moreno Gabriel Ángel , Pozo-Román Jesús , Argente Jesús

Background: A few patients with NS have been reported to harbour pathogenic mutations in LZTR1 gene. RAS regulation by LZTR1-mediated ubiquitination provides an explanation for the role of LZTR1 in human disease. Mutations in this gene could hence lead to NS phenotype. Three patients with mutations in this gene and compatible NS phenotype are herein described.Case 1: A 5 year-old boy with bilateral cryp...