Gene/phenotype/disorder under study
Noonan syndrome 8 (RIT1): OMIM #615355
Abstract
Scientific publications on RIT1-associated Noonan syndrome to date are based mainly on small case series. These suggest that growth retardation and developmental delay occur less frequently and are less severe than in other Noonan syndrome subtypes, whereas hypertrophic cardiomyopathy and lymphovascular issues are disproportionately common. However, these observations are largely not supported by systematic studies with sufficient statistical power. In particular, longitudinal data on growth and cognitive development into adolescence and adulthood are lacking. Moreover, the influence of specific genetic variants in the RIT1 gene on disease severity and clinical course remains poorly understood.
The aim of this study is to obtain more robust insights into the clinical spectrum and variability of RIT1-Noonan syndrome and to investigate genotype-phenotype correlations. For this purpose, clinical and genetic data from a larger cohort of affected individuals will be systematically collected and analyzed, with a particular focus on hypertrophic cardiomyopathy, lymphatic abnormalities, growth, and neurocognitive development.
Coordinating clinicians
Daniel van Wezel, M.D. student – daniel.wezel@st.ovgu.de
Prof. Dr. med. Martin Zenker
Institution
Institute of Human Genetics, University Hospital Magdeburg, Germany
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes
2- Resampling of patients: No
3- Linked to a translational/basic research project: No