Noonan syndrome ‐associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish

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.

Source: Molecular Genetics & Genomic Medicine - December 27, 2019 Category: Genetics & Stem Cells Authors: Yu Nakagama, Norihiko Takeda, Seishi Ogawa, Hiroyuki Takeda, Yoshiyuki Furutani, Toshio Nakanishi, Tatsuyuki Sato, Yoichiro Hirata, Akira Oka, Ryo Inuzuka Tags: ORIGINAL ARTICLE Source Type: research