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

Tetsuya Niihori; Yoko Aoki; Yoko Narumi; Giovanni Neri; Hélène Cavé; Alain Verloes; Nobuhiko Okamoto; Raoul C. M. Hennekam; Gabriele Gillessen-Kaesbach; Dagmar Wieczorek; Maria Ines Kavamura; Kenji Kurosawa; Hirofumi Ohashi; Louise Wilson; Delphine Heron; Dominique Bonneau; Giuseppina Corona; Tadashi Kaname; Kenji Naritomi; Clarisse Baumann; Naomichi Matsumoto; Kumi Kato; Shigeo Kure; Yoichi Matsubara

doi:https://doi.org/10.1038/ng1749

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

Tetsuya Niihori, Yoko Aoki, Yoko Narumi, Giovanni Neri, Hélène Cavé, Alain Verloes, Nobuhiko Okamoto, Raoul C. M. Hennekam, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Maria Ines Kavamura, Kenji Kurosawa, Hirofumi Ohashi, Louise Wilson, Delphine Heron, Dominique Bonneau, Giuseppina Corona, Tadashi Kaname, Kenji Naritomi, Clarisse BaumannNaomichi Matsumoto, Kumi Kato, Shigeo Kure, Yoichi Matsubara

Research output: Contribution to journal › Article › Academic › peer-review

479 Citations (Scopus)

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

Original language	English
Pages (from-to)	294-296
Journal	Nature Genetics
Volume	38
Issue number	3
DOIs	https://doi.org/10.1038/ng1749
Publication status	Published - 2006

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Cite this

Niihori, T., Aoki, Y., Narumi, Y., Neri, G., Cavé, H., Verloes, A., Okamoto, N., Hennekam, R. C. M., Gillessen-Kaesbach, G., Wieczorek, D., Kavamura, M. I., Kurosawa, K., Ohashi, H., Wilson, L., Heron, D., Bonneau, D., Corona, G., Kaname, T., Naritomi, K., ... Matsubara, Y. (2006). Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nature Genetics, 38(3), 294-296. https://doi.org/10.1038/ng1749

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title = "Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome",

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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Niihori, T, Aoki, Y, Narumi, Y, Neri, G, Cavé, H, Verloes, A, Okamoto, N, Hennekam, RCM, Gillessen-Kaesbach, G, Wieczorek, D, Kavamura, MI, Kurosawa, K, Ohashi, H, Wilson, L, Heron, D, Bonneau, D, Corona, G, Kaname, T, Naritomi, K, Baumann, C, Matsumoto, N, Kato, K, Kure, S & Matsubara, Y 2006, 'Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome', Nature Genetics, vol. 38, no. 3, pp. 294-296. https://doi.org/10.1038/ng1749

TY - JOUR

T1 - Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

AU - Niihori, Tetsuya

AU - Aoki, Yoko

AU - Narumi, Yoko

AU - Neri, Giovanni

AU - Cavé, Hélène

AU - Verloes, Alain

AU - Okamoto, Nobuhiko

AU - Hennekam, Raoul C. M.

AU - Gillessen-Kaesbach, Gabriele

AU - Wieczorek, Dagmar

AU - Kavamura, Maria Ines

AU - Kurosawa, Kenji

AU - Ohashi, Hirofumi

AU - Wilson, Louise

AU - Heron, Delphine

AU - Bonneau, Dominique

AU - Corona, Giuseppina

AU - Kaname, Tadashi

AU - Naritomi, Kenji

AU - Baumann, Clarisse

AU - Matsumoto, Naomichi

AU - Kato, Kumi

AU - Kure, Shigeo

AU - Matsubara, Yoichi

PY - 2006

Y1 - 2006

N2 - 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

AB - 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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DO - https://doi.org/10.1038/ng1749

M3 - Article

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SN - 1061-4036

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