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
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Nat Genet. 2006 Mar;38(3):294-6. doi: 10.1038/ng1749. Epub 2006 Feb 12.
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.
心脏-颜面-皮肤（CFC）综合征的特征为独特的面部外观、心脏缺陷和智力发育迟缓。它在表型上与努南综合征和科斯特洛综合征重叠，后两者分别由PTPN11和HRAS基因突变引起。在43例CFC患者中，我们在3例患者中鉴定出两个KRAS杂合突变，在16例患者中鉴定出8个BRAF突变，这表明RAS-RAF-ERK信号通路失调是这三种相关疾病的共同分子基础。
