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.
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Tetsuya
T
Niihori
Yoko
Y
Aoki
Yoko
Y
Narumi
Giovanni
G
Neri
Hélène
H
Cavé
Alain
A
Verloes
Nobuhiko
N
Okamoto
Raoul C M
RC
Hennekam
Gabriele
G
Gillessen-Kaesbach
Dagmar
D
Wieczorek
Maria Ines
MI
Kavamura
Kenji
K
Kurosawa
Hirofumi
H
Ohashi
Louise
L
Wilson
Delphine
D
Heron
Dominique
D
Bonneau
Giuseppina
G
Corona
Tadashi
T
Kaname
Kenji
K
Naritomi
Clarisse
C
Baumann
Naomichi
N
Matsumoto
Kumi
K
Kato
Shigeo
S
Kure
Yoichi
Y
Matsubara
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