Noonan syndrome (NS) is an autosomal dominant disorder, characterized by a number of features such as, short stature, skeletal and heart defects, and facial disformorfías. Previously, this condition was known as male Turner syndrome.
Alterations in cardiac function are present in more than half of patients. Other disorders may appear as miocariopatías hypertrophic atrial septal defects and ventricular and arterial stenosis and / or valvular, among others.
Although Noonan syndrome submits an autosomal dominant inheritance, there are also patients with de novo mutations. Children from sick parents will have a 50% chance of developing the disease.
Noonan syndrome has a prevalence of between 1:1000 and 1:2500 individuals. However, it is possible that individuals with mild disease expression, would not be detected.
Described a series of genes whose mutations would be associated with the NS. Changes were found in the PTPN11 gene in 50% of individuals affected, SOS1 in 13%, SHOC2, KRAS in less than 5%, and mutations in RAF1 from 3% to 17% of patients. Also it being identified other genes (BRAF, NRAS and MAP2K1) with much less frequent mutations among patients.
Bioarray provides a panel for detection of Noonan syndrome by NGS technology through the sequencing of the genes: PTPN11, SOS1, RAF1, KRAS, BRAF, MAP2K1, CBL, MAP2K2, and SHOC2.