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|Title:||Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome|
Kavamura, Maria Ines
Hennekam, Raoul C. M.
Wilson, Louise C.
Univ Cattolica Sacro Cuore
Hop Robert Debre
Universidade Federal de São Paulo (UNIFESP)
Osaka Med Ctr
Res Inst Maternal & Child Hlth
Kanagawa Childrens Med Ctr
Inst Child Hlth
Great Ormond St Hosp Sick Children
Univ Essen Gesamthsch
Univ Klinikum Schleswig Holstein
Hosp Univ La Paz
Saitama Childrens Med Ctr
Asahikawa Med Coll
Ibaraki Prefectural Handicapped Childrens Ctr
|Keywords:||multiple congenital anomaly|
|Citation:||American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 8, p. 799-807, 2007.|
|Abstract:||Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in two genes, PTPN11 and HRAS, respectively. Recently, we identified mutations in KRAS and BRAF in 19 of 43 individuals with CFC syndrome, suggesting that dysregulation of the RAS/RAF/MEK/ERK pathway is a molecular basis for CFC syndrome. the purpose of this study was to perform comprehensive mutation analysis in 56 patients with CFC syndrome and to investigate genotype-phenotype cot-relation. We analyzed KRAS, BRAF, and MAP2K1/2 (MEK1/2) in 13 new CFC patients and identified five BRAF and one MAP2K1 mutations in nine patients. We detected one MAP2K1 mutation in three patients and four new MAP2K2 mutations in four patients out of 24 patients without KRAS or BRAF mutations in the previous study [Niihori et al., 2006]. No mutations were identified in MAPK3/1(ERKI/2) in 21 patients without any mutations. in total, 35 of 56 (62.5%) patients with CFC syndrome had mutations (3 in KRAS, 24 in BRAF, and 8 in MAP2K1/2). No significant differences in clinical manifestations were found among 3 KRAS-positive patients, 16 BRAF-positive patients, and 6 MAP2K1/2-positive patients. Wrinkled palms and soles, hyperpigmentation and joint hyperextension, which have been commonly reported in Costello syndrome but not in CFC syndrome, were observed in 30-40% of the mutation-positive CFC patients, suggesting a significant clinical overlap between these two syndromes. (c) 2007 Wiley-Liss, Inc.|
|Appears in Collections:||Em verificação - Geral|
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