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Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
J Hum Genet 2008; 53(9):834-41JH

Abstract

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.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18651097

Citation

Narumi, Yoko, et al. "Clinical Manifestations in Patients With SOS1 Mutations Range From Noonan Syndrome to CFC Syndrome." Journal of Human Genetics, vol. 53, no. 9, 2008, pp. 834-41.
Narumi Y, Aoki Y, Niihori T, et al. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. J Hum Genet. 2008;53(9):834-41.
Narumi, Y., Aoki, Y., Niihori, T., Sakurai, M., Cavé, H., Verloes, A., ... Matsubara, Y. (2008). Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. Journal of Human Genetics, 53(9), pp. 834-41. doi:10.1007/s10038-008-0320-0.
Narumi Y, et al. Clinical Manifestations in Patients With SOS1 Mutations Range From Noonan Syndrome to CFC Syndrome. J Hum Genet. 2008;53(9):834-41. PubMed PMID: 18651097.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. AU - Narumi,Yoko, AU - Aoki,Yoko, AU - Niihori,Tetsuya, AU - Sakurai,Masahiro, AU - Cavé,Hélène, AU - Verloes,Alain, AU - Nishio,Kimio, AU - Ohashi,Hirofumi, AU - Kurosawa,Kenji, AU - Okamoto,Nobuhiko, AU - Kawame,Hiroshi, AU - Mizuno,Seiji, AU - Kondoh,Tatsuro, AU - Addor,Marie-Claude, AU - Coeslier-Dieux,Anne, AU - Vincent-Delorme,Catherine, AU - Tabayashi,Koichi, AU - Aoki,Masashi, AU - Kobayashi,Tomoko, AU - Guliyeva,Afag, AU - Kure,Shigeo, AU - Matsubara,Yoichi, Y1 - 2008/07/24/ PY - 2008/04/23/received PY - 2008/06/23/accepted PY - 2008/7/25/pubmed PY - 2008/11/18/medline PY - 2008/7/25/entrez SP - 834 EP - 41 JF - Journal of human genetics JO - J. Hum. Genet. VL - 53 IS - 9 N2 - 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. SN - 1434-5161 UR - https://www.unboundmedicine.com/medline/citation/18651097/Clinical_manifestations_in_patients_with_SOS1_mutations_range_from_Noonan_syndrome_to_CFC_syndrome_ L2 - http://www.diseaseinfosearch.org/result/5260 DB - PRIME DP - Unbound Medicine ER -