2. Academic Validation
  3. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

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

  • Nat Genet. 2006 Mar;38(3):294-6. doi: 10.1038/ng1749.
Tetsuya Niihori 1,  Yoko Aoki,  Yoko Narumi,  Giovanni Neri,  Hélène Cavé,  Alain Verloes,  Nobuhiko Okamoto,  Raoul C M Hennekam,  Gabriele Gillessen-Kaesbach,  Dagmar Wieczorek,  Maria Ines Kavamura,  Kenji Kurosawa,  Hirofumi Ohashi,  Louise Wilson,  Delphine Heron,  Dominique Bonneau,  Giuseppina Corona,  Tadashi Kaname,  Kenji Naritomi,  Clarisse Baumann,  Naomichi Matsumoto,  Kumi Kato,  Shigeo Kure,  Yoichi Matsubara
Affiliations

Affiliation

  • 1 Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
PMID: 16474404 DOI: 10.1038/ng1749
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.

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