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

Tetsuya Niihori, 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 BaumannNaomichi Matsumoto, Kumi Kato, Shigeo Kure, Yoichi Matsubara

*Corresponding author for this work
419 Citations (Scopus)


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.

Original languageEnglish
JournalNature Genetics
Issue number3
Pages (from-to)294-296
Number of pages3
Publication statusPublished - 03.2006

Research Areas and Centers

  • Research Area: Medical Genetics


Dive into the research topics of 'Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome'. Together they form a unique fingerprint.

Cite this