Mutations cause Noonan syndrome

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Germline KRAS mutations cause Noonan syndrome” (Nat Genet. 2006 Feb 12). Authors are Schubbert S, Zenker M, Rowe SL, at all from the Department of Pediatrics, University of California, San Francisco, California, USA. Noonan syndrome is characterized by short stature, facial dysmorphism and cardiac defects. The authors discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome, which has overlapping features with Noonan syndrome. These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras. To access the full abstract of the article, click here.