Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Nat Genet. 2006 Mar;38(3):294-6. doi: 10.1038/ng1749. Epub 2006 Feb 12.

Abstract

Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello syndrome, which are caused by mutations in PTPN11 and HRAS, respectively. In 43 individuals with CFC, we identified two heterozygous KRAS mutations in three individuals and eight BRAF mutations in 16 individuals, suggesting that dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Face / abnormalities*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Intellectual Disability / genetics
  • Molecular Sequence Data
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins B-raf / genetics*
  • Proto-Oncogene Proteins p21(ras)
  • Reference Values
  • Skin Abnormalities / genetics*
  • Syndrome
  • ras Proteins

Substances

  • KRAS protein, human
  • Proto-Oncogene Proteins
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • Proto-Oncogene Proteins p21(ras)
  • ras Proteins

Associated data

  • OMIM/115150
  • OMIM/163950
  • OMIM/218040
  • RefSeq/NC_000001
  • RefSeq/NC_000007
  • RefSeq/NC_000011
  • RefSeq/NC_000012
  • RefSeq/NM_004333
  • RefSeq/NM_004985