title: RTK mutations and human syndromeswhen good receptors turn bad.
abstract: Mutations in receptor tyrosine kinases (RTKs) have been linked to an increasing number of inherited human disease syndromes, including dwarfism, craniosynostosis, heritable cancer susceptibility, venous malformation and Piebaldism. Both gain-of-function mutations resulting in constitutive receptor activation, and loss-of-function mutations resulting in non-functional or dominant negative receptors, have been observed. This review summarizes RTK families that are involved in inherited syndromes, describes the molecular consequences of the disease mutations, and predicts that many novel mutations remain to be identified.
authors.affiliation: Department of Chemistry and Biochemistry, and Center for Molecular Genetics, University of California, San Diego, La Jolla, CA 92093-0367, USA. scr@chem.ucsd.edu
authors.forename: S C
authors.initials: SC
authors.lastname: Robertson
authors.forename: J A
authors.initials: JA
authors.lastname: Tynan
authors.forename: D J
authors.initials: DJ
authors.lastname: Donoghue
mesh_terms: D003398:Craniosynostoses / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008209:Lymphedema / Q000235:genetics; D009377:Multiple Endocrine Neoplasia / Q000235:genetics; D009101:Multiple Myeloma / Q000235:genetics; D009154:Mutation; D016116:Piebaldism / Q000235:genetics; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics* / Q000378:metabolism; D015398:Signal Transduction; D013577:Syndrome
chemical_list: D020794:Receptor Protein-Tyrosine Kinases