Molecular Genetics PTPN11, Sequencing

Noonan syndrome (NS) is an autosomal dominant disorder characterized by cardiac defects (including pulmonary stenosis, hypertrophic cardiomyopathy and septal defects), facial dysmorphology (low-set, posteriorly rotated ears, hypertelorism and downward slanting palpebral fissures), short stature, developmental delay, and bleeding diatheses.  NS has been shown to be caused by mutations in PTPN11 in about 50% of cases.  PTPN11 encodes the non-receptor-type protein tyrosine phosphatase SHP-2 on chromosome 12q24.1.  Incidence of NS is estimated to be 1:1000 to 1:2500 live births.

Reasons for Referral:

• Confirmation of clinical diagnosis in patients with Noonan syndrome
• Prenatal diagnosis

For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.