Username


Password

Forgot Password?

Preview

Sign-in free and Explore the Exciting World of BiomedExperts:
  • Over 1.500.000 Profiles
  • More than 1.800 Organizations worldwide
  • State of the Art Network Visualizations
  • Manage your own Profile
  • Locate Experts in your Country/Region
  • Locate Experts in your 1. and 2. Level Network
  • Connect to Experts Worldwide

find experts for

Sign-in to see more
2008: Narumi Yoko; Aoki Yoko; Niihori Tetsuya; Sakurai Masahiro; Cavé Hélène; Verloes Alain; Nishio Kimio; Ohashi Hirofumi; Kurosawa Kenji; Okamoto Nobuhiko; Kawame Hiroshi; Mizuno Seiji; Kondoh Tatsuro; Addor Marie-Claude; Coeslier-Dieux Anne; Vincent-Delorme Catherine; Tabayashi Koichi; Aoki Masashi; Kobayashi Tomoko; Guliyeva Afag; Kure Shigeo; Matsubara Yoichi
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Journal of human genetics 2008;53(9):834-41.
Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and mental retardation. There is a significant clinical overlap between NS and CFC syndrome, but ectodermal abnormalities and mental retardation are more frequent in CFC syndrome. Mutations in PTPN11 and KRAS have been identified in patients with NS and those in KRAS, BRAF and MAP2K1/2 have been identified in patients with CFC syndrome, establishing a new role of the RAS/MAPK pathway in human development. Recently, mutations in the son of sevenless gene (SOS1) have also been identified in patients with NS. To clarify the clinical spectrum of patients with SOS1 mutations, we analyzed 24 patients with NS, including 3 patients in a three-generation family, and 30 patients with CFC syndrome without PTPN11, KRAS, HRAS, BRAF, and MAP2K1/2 (MEK1/2) mutations. We identified two SOS1 mutations in four NS patients, including three patients in the above-mentioned three-generation family. In the patients with a CFC phenotype, three mutations, including a novel three amino-acid insertion, were identified in one CFC patient and two patients with both NS and CFC phenotypes. These three patients exhibited ectodermal abnormalities, such as curly hair, sparse eyebrows, and dry skin, and two of them showed mental retardation. Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome.

Post to CiteULike

Sign in free and see...

Visualized networks:
See your personal network in
sophisticated graphical views
GeoTargeted Searches:
Locate experts around the world
and connect with global collaborators
Research Profiles:
See the visualized research activity
of experts around the globe
Sign-in to see more