RIT1 mutations represent one of the five most common causes of Noonan syndrome. RIT1-associated Noonan syndrome is characterized by a pronounced association with lymphocardiovascular manifestations, particularly hypertrophic cardiomyopathy.

There are several reports of severe lymphovascular complications in RIT1 mutations, while growth and developmental disorders are absent. However, these potential genotype-phenotype correlations have not yet been substantiated by robust statistical analyses in sufficiently large cohorts.

The primary objective of this research is to systematically analyze the genotype and phenotype spectrum within an expanded cohort of patients with RIT1-associated Noonan syndrome. For data collection, three specifically designed questionnaires will be used, to be completed either by the patients themselves, their relatives, or the treating physicians.

Participation requirements

• Diagnosed RIT1-related Noonan syndrome
• A computer with internet connection

Personal appearance at the institute is not necessary. All questionnaires can be conveniently completed from home.

About me

My name is Daniel van Wezel, I am a medical student at the University of Magdeburg and a doctoral candidate at the Institute of Human Genetics. I would greatly appreciate your willingness to participate in my study.