Two novel cases of autosomal recessive Noonan syndrome associated with LZTR1 variants

Publication date: Available online 8 June 2019Source: Revista Española de Cardiología (English Edition)Author(s): Francesca Perin, Juan Pablo Trujillo-Quintero, Juan Jimenez-Jaimez, María del Mar Rodríguez-Vázquez del Rey, Lorenzo Monserrat, Luis Tercedor
Source: Revista Espanola de Cardiologia - Category: Cardiology Source Type: research

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Noonan Syndrome (NS) is the most common single gene disorder associated with increased nuchal translucency (NT). Clinical presentations can vary from lethal in utero to mildly affected individuals. Thus, counseling is complex. In the setting of increased NT, there is no recommendation regarding NS testing. The aim of this study is to report prevalence of NS in patients with NT ≥ 3mm.
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ConclusionOur novel zebrafish model phenocopied human recessive Noonan syndrome and supported the loss ‐of‐function mechanism of disease‐causingLZTR1 variants. The discovery of vascular malformations in mutants calls for the clinical follow ‐up of patients to monitor for its emergence. The model will serve as a novel platform for investigating the pathophysiology linking RAS/MAPK signaling to cardiac and vascular pathology.
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