RASopathies, including Noonan syndrome, involve dysmorphisms, metabolic alterations, and an unfavorable lipid profile. This study investigates lipid and glucose metabolism to improve patient care.
Clinically diagnosed RASopathy confirmed by molecular testing;
Patients referred to participating centers between 01/01/2001 and 31/12/2022;
Age at enrollment between 2 and 35 years, inclusive;
Obtaining informed consent.
None.
Patients with molecularly confirmed RASopathy and a follow-up of at least 2 years at the participating centers as of 31/12/2024.
Cohort
Retrospective
Not listed
To assess whether the lipid profile of patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype
total, HDL, LDL cholesterol and triglycerides (mg/dL)
To assess whether glucose metabolism in patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype
Insulin and blood glucose (mg/dL)
To determine whether altered lipoprotein levels, compared to the general population as reported in the literature, are associated with altered apo-B and apo-A1 levels in the different forms of RASopathy
ApoA1-B (mg/dl)
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