[HTML][HTML] PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects

MI Kontaridis, KD Swanson, FS David, D Barford… - Journal of Biological …, 2006 - ASBMB
Multiple lentigines/LEOPARD syndrome (LS) is a rare, autosomal dominant disorder
characterized by Lentigines, Electrocardiogram abnormalities, Ocular hypertelorism,
Pulmonic valvular stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness.
Like the more common Noonan syndrome (NS), LS is caused by germ line missense
mutations in PTPN11, encoding the protein-tyrosine phosphatase Shp2. Enzymologic,
structural, cell biological, and mouse genetic studies indicate that NS is caused by gain-of …