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

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 tw...

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Veröffentlicht in:	Nature genetics 2006-03, Vol.38 (3), p.294-296
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Amino Acid Sequence Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine brief-communication Cancer Research Cell physiology Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes Complications and side effects Diagnosis Face - abnormalities Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Heart Defects, Congenital - genetics Human Genetics Humans Identification and classification Intellectual Disability - genetics Medical disorders Molecular and cellular biology Molecular Sequence Data Mutation Oncogenes Physiological aspects Proto-Oncogene Proteins - genetics Proto-Oncogene Proteins B-raf - genetics Proto-Oncogene Proteins p21(ras) ras Proteins Reference Values Risk factors Skin Abnormalities - genetics Syndrome
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Zusammenfassung:	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.
ISSN:	1061-4036 1546-1718
DOI:	10.1038/ng1749