Nature Genetics 38, 294 - 296 (2006)
Published online: 12 February 2006; | doi:10.1038/ng1749
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndromeTetsuya Niihori1, Yoko Aoki1, Yoko Narumi1, Giovanni Neri2, Hélène Cavé3, Alain Verloes3, Nobuhiko Okamoto4, Raoul C M Hennekam5, Gabriele Gillessen-Kaesbach6, Dagmar Wieczorek6, Maria Ines Kavamura7, Kenji Kurosawa8, Hirofumi Ohashi9, Louise Wilson10, Delphine Heron11, Dominique Bonneau12, Giuseppina Corona13, Tadashi Kaname14, Kenji Naritomi14, Clarisse Baumann3, Naomichi Matsumoto15, Kumi Kato1, 16, Shigeo Kure1
& Yoichi Matsubara1, 161
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan. 2
Università Cattolica, Istituto di Genetica Medica, Rome, Italy. 3
Department of Genetics, Hôpital Robert Debré (APHP), Paris, France. 4
Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan. 5
Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK and Department of Pediatrics, Academic Medical Center, Amsterdam, Netherlands. 6
Institut für Humangenetik, Universität Essen, Essen, Germany. 7
Medical Genetics Center, Federal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. 8
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. 9
Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan. 10
Great Ormond Street Hospital, London, UK. 11
Genetic Department, Pitie-Salpetriere University Hospital, Paris, France. 12
Genetic Department, University Hospital, Angers, France. 13
Unità Operativa Complessa Patologia Neonatale e Terapia Intensiva, Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, Azienda Ospedaliera Universitaria G. Martino, Messina, Italy. 14
Department of Medical Genetics, University of the Ryukyus School of Medicine, Okinawa, Japan. 15
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokahama, Japan. 16
Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation, 21st Century COE Program, Tohoku University, Sendai, Japan.
Correspondence should be addressed to Yoko Aoki aokiy@mail.tains.tohoku.ac.jp NC_000012NC_000011NC_000001NC_000007NM_004985NM_004333Cardio-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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