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Abstract

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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PubMed ID:: 16474404

DOI:: 10.1038/ng1749

ScienceOpen disciplines: Chemistry

Keywords: Amino Acid Sequence,Face,abnormalities,Heart Defects, Congenital,genetics,Humans,Intellectual Disability,Molecular Sequence Data,Proto-Oncogene Proteins,Proto-Oncogene Proteins B-raf,Reference Values,Skin Abnormalities,Syndrome,ras Proteins

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ScienceOpen disciplines: Chemistry

Keywords: Amino Acid Sequence, Face, abnormalities, Heart Defects, Congenital, genetics, Humans, Intellectual Disability, Molecular Sequence Data, Proto-Oncogene Proteins, Proto-Oncogene Proteins B-raf, Reference Values, Skin Abnormalities, Syndrome, ras Proteins

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