Análisis molecular del gen PTPN11 en el síndrome de Noonan

Noonan syndrome (SN [MIM 163950]) is a clinically heterogeneous disease characterized by short stature, facial dysmorphism and a wide spectrum of cardiac defects present at birth. The diagnosis is made clinically, although this can be very difficult because it presents a great variability in phenotypic expression. The aim of this study was the molecular analysis of the gene PTPN11 in a sample of Mexican patients with sporadic Noonan syndrome. In our patients, it was not possible to characterize any mutation in the gene PTPN11 causative of Noonan syndrome, this was perhaps because the cases were sporadic. In this study we found that Noonan syndrome was not due to mutations in the gene PTPN11.