The First Noonan Syndrome Gene: PTPN11, Which Encodes the Protein Tyrosine Phosphatase SHP-2

A review of: Tartaglia M, Mehler EL, Goldberg R et al. 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465–468; and Tartaglia M, Kalidas K, Shaw A et al. 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70:1555–1563

Noonan syndrome is a common autosomal dominant disorder characterized by unusual facial features, short stature, skeletal anomalies, and defects of the heart, the most common of which are pulmonary valve dysplasia and hypertrophic cardiomyopathy (1, 2). Intellectual handicap, usually mild, and bleeding diatheses, are also found. Incidence is said to be 1 in 1000-2500 births. In 1994, Noonan syndrome was mapped to 12q24.1 and genetic heterogeneity was documented (3). The search for a causative gene has recently borne fruit.

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