Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G Mutation.

ABSTRACT:

Background

Noonan syndrome is a congenital genetic disorder characterized by distinctive craniofacial features, short stature, and congenital heart disease. Dysregulation of the RAS/mitogen-activated protein kinase (MAPK) pathway is a common molecular mechanism underlying the pathogenesis of these disorders. Germline mutations in RIT1 have also been identified in patients with Noonan syndrome. Patients with RIT1 mutations frequently exhibit cardiovascular abnormalities such as hypertrophic cardiomyopathy and lymphatic disorders. However, it remains unclear when cardiovascular abnormalities and lymphatic disorders develop and whether these disorders influence prognosis during the fetal period.

Methods

We investigated the cardiovascular and lymphatic phenotypes of Rit1^A57

SUBMITTER: Suzuki D 

PROVIDER: S-EPMC12701617 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature