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2006:
Niihori Tetsuya; Aoki Yoko; Narumi Yoko; Neri Giovanni; Cavé Hélène; Verloes Alain; Okamoto Nobuhiko; Hennekam Raoul C M; Gillessen-Kaesbach Gabriele; Wieczorek Dagmar; Kavamura Maria Ines; Kurosawa Kenji; Ohashi Hirofumi; Wilson Louise; Heron Delphine; Bonneau Dominique; Corona Giuseppina; Kaname Tadashi; Naritomi Kenji; Baumann Clarisse; Matsumoto Naomichi; Kato Kumi; Kure Shigeo; Matsubara Yoichi
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
Nature genetics 2006;
38(
3):.
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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