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: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

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Humangenetik

525 Zitate (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.

Originalsprache	Englisch
Zeitschrift	Nature Genetics
Jahrgang	38
Ausgabenummer	3
Seiten (von - bis)	294-296
Seitenumfang	3
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng1749
Publikationsstatus	Veröffentlicht - 03.2006

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We wish to thank the individuals and their families who participated in this study and the doctors who referred the cases. The support of CFC International in facilitating the collection of patient samples is gratefully acknowledged. We are grateful to J. Miyazaki, Osaka University, for supplying the pCAGGS expression vector. This work was supported by Grants-in-Aid from the Ministry of Education, Culture, Sports, Science and Technology of Japan and Grants-in-Aid from the Ministry of Health, Labor, and Welfare of Japan.

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SDG 3 – Gesundheit und Wohlergehen

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Querschnittsbereich: Medizinische Genetik

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10.1038/ng1749

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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

@article{d313fecdf12c4fbd908577e4d56b08eb,

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.",

author = "Tetsuya Niihori and Yoko Aoki and Yoko Narumi and Giovanni Neri and H{\'e}l{\`e}ne Cav{\'e} and Alain Verloes and Nobuhiko Okamoto and Hennekam, \{Raoul C.M.\} and Gabriele Gillessen-Kaesbach and Dagmar Wieczorek and Kavamura, \{Maria Ines\} and Kenji Kurosawa and Hirofumi Ohashi and Louise Wilson and Delphine Heron and Dominique Bonneau and Giuseppina Corona and Tadashi Kaname and Kenji Naritomi and Clarisse Baumann and Naomichi Matsumoto and Kumi Kato and Shigeo Kure and Yoichi Matsubara",

note = "Funding Information: We wish to thank the individuals and their families who participated in this study and the doctors who referred the cases. The support of CFC International in facilitating the collection of patient samples is gratefully acknowledged. We are grateful to J. Miyazaki, Osaka University, for supplying the pCAGGS expression vector. This work was supported by Grants-in-Aid from the Ministry of Education, Culture, Sports, Science and Technology of Japan and Grants-in-Aid from the Ministry of Health, Labor, and Welfare of Japan.",

year = "2006",

month = mar,

doi = "10.1038/ng1749",

language = "English",

volume = "38",

pages = "294--296",

journal = "Nature Genetics",

issn = "1061-4036",

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number = "3",

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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, Jg. 38, Nr. 3, S. 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

N1 - Funding Information: We wish to thank the individuals and their families who participated in this study and the doctors who referred the cases. The support of CFC International in facilitating the collection of patient samples is gratefully acknowledged. We are grateful to J. Miyazaki, Osaka University, for supplying the pCAGGS expression vector. This work was supported by Grants-in-Aid from the Ministry of Education, Culture, Sports, Science and Technology of Japan and Grants-in-Aid from the Ministry of Health, Labor, and Welfare of Japan.

PY - 2006/3

Y1 - 2006/3

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.

UR - https://www.scopus.com/pages/publications/33644629727

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DO - 10.1038/ng1749

M3 - Journal articles

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AN - SCOPUS:33644629727

SN - 1061-4036

VL - 38

SP - 294

EP - 296

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

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

Abstract

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