Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

• Published in: American journal of human genetics Vol. 87; no. 2; pp. 250 - 257
• Main Authors: Martinelli, Simone, De Luca, Alessandro, Stellacci, Emilia, Rossi, Cesare, Checquolo, Saula, Lepri, Francesca, Caputo, Viviana, Silvano, Marianna, Buscherini, Francesco, Consoli, Federica, Ferrara, Grazia, Digilio, Maria C., Cavaliere, Maria L., van Hagen, Johanna M., Zampino, Giuseppe, van der Burgt, Ineke, Ferrero, Giovanni B., Mazzanti, Laura, Screpanti, Isabella, Yntema, Helger G., Nillesen, Willy M., Savarirayan, Ravi, Zenker, Martin, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 13.08.2010; Cell Press; Elsevier
• Subjects: Amino Acid Substitution - genetics; Base Sequence; Biological and medical sciences; Diseases of the osteoarticular system; DNA Mutational Analysis; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetic disorders; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Germ-Line Mutation - genetics; Heterozygote; Humans; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical genetics; Medical sciences; Molecular and cellular biology; Molecular Sequence Data; Mutant Proteins - genetics; Mutation; Noonan Syndrome - genetics; Phenotype; Proto-Oncogene Proteins c-cbl - genetics; Tumor Suppressor Proteins - genetics; Tumors; Human; Nervous system diseases; Phenotype; Germ line; Noonan syndrome; Diseases of the osteoarticular system; Cardiovascular disease; Genetics; Mutation; Osteochondrodysplasia; Genetic disease; Tumor suppressor gene

RAS signaling plays a key role in controlling appropriate cell responses to extracellular stimuli and participates in early and late developmental processes. Although enhanced flow through this pathway has been established as a major contributor to oncogenesis, recent discoveries have revealed that...