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 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.
Niihori
Tetsuya
T
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Aoki
Yoko
Y
Narumi
Yoko
Y
Neri
Giovanni
G
Cavé
Hélène
H
Verloes
Alain
A
Okamoto
Nobuhiko
N
Hennekam
Raoul C M
RC
Gillessen-Kaesbach
Gabriele
G
Wieczorek
Dagmar
D
Kavamura
Maria Ines
MI
Kurosawa
Kenji
K
Ohashi
Hirofumi
H
Wilson
Louise
L
Heron
Delphine
D
Bonneau
Dominique
D
Corona
Giuseppina
G
Kaname
Tadashi
T
Naritomi
Kenji
K
Baumann
Clarisse
C
Matsumoto
Naomichi
N
Kato
Kumi
K
Kure
Shigeo
S
Matsubara
Yoichi
Y
D000595:Amino Acid Sequence; D005145:Face / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008969:Molecular Sequence Data; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras); D012016:Reference Values; D012868:Skin Abnormalities / Q000235:genetics*; D013577:Syndrome; D018631:ras Proteins
C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins