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 two...

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Veröffentlicht in:	Nature genetics 2006-03, Vol.38 (3), p.294-296
Hauptverfasser:	Heron, Delphine, Okamoto, Nobuhiko, Hennekam, Raoul C M, Ohashi, Hirofumi, Wilson, Louise, Kurosawa, Kenji, Baumann, Clarisse, Wieczorek, Dagmar, Kavamura, Maria Ines, Matsubara, Yoichi, Gillessen-Kaesbach, Gabriele, Kaname, Tadashi, Naritomi, Kenji, Kato, Kumi, Narumi, Yoko, Neri, Giovanni, Corona, Giuseppina, Aoki, Yoko, Niihori, Tetsuya, Cavé, Hélène, Verloes, Alain, Matsumoto, Naomichi, Kure, Shigeo, Bonneau, Dominique
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Biological and medical sciences 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 mutations Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Heart Defects, Congenital - 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