Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

ABSTRACT:

Background

Noonan syndrome, cardio-facio-cutaneous syndrome (CFC) and Costello syndrome constitute a group of developmental disorders with an overlapping pattern of congenital anomalies. Each of these conditions can be caused by germline mutations in key components of the highly conserved Ras-MAPK pathway, possibly reflecting a similar pathogenesis underlying the three disorders. Germline mutations in KRAS have recently been identified in a small number of patients with Noonan syndrome and CFC.

Methods and results

260 patients were screened for KRAS mutations by direct sequencing. Overall, we detected KRAS mutations in 12 patients, including three known and eight novel sequence alterations. All mutations are predicted to cause single amino acid substitutions. Remarkably, our

SUBMITTER: Zenker M 

PROVIDER: S-EPMC2598066 | biostudies-literature | 2007 Feb

REPOSITORIES: biostudies-literature