The cardiofaciocutaneous syndrome

The cardiofaciocutaneous syndrome

Autor Roberts, A. Google Scholar
Allanson, J. Google Scholar
Jadico, S. K. Google Scholar
Kavamura, Maria Ines Autor UNIFESP Google Scholar
Noonan, J. Google Scholar
Opitz, J. M. Google Scholar
Young, T. Google Scholar
Neri, G. Google Scholar
Instituição Univ Sacred Heart
Duke Univ
Univ Utah
Univ Kentucky
Universidade Federal de São Paulo (UNIFESP)
Univ Penn
Univ Ottawa
Childrens Hosp Eastern Ontario
Harvard Univ
Resumo The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward- slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. the cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. the developmental delay usually is moderate to severe. the syndrome is caused by gain-offunction mutations in four different genes BRAF, KRAS, mitogen- activated protein/ extracellular signal-regulated kinase MEK1 and MEK2, all belonging to the same RAS extracellular signal- regulated kinase ( ERK) pathway that regulates cell differentiation, proliferation and apoptosis. the CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP- 2 gene ( PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. the protein products of these genes also belong to the RAS - ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.
Idioma Inglês
Data 2006-11-01
Publicado em Journal of Medical Genetics. London: B M J Publishing Group, v. 43, n. 11, p. 833-842, 2006.
ISSN 0022-2593 (Sherpa/Romeo, fator de impacto)
Editor B M J Publishing Group
Extensão 833-842
Direito de acesso Acesso aberto Open Access
Tipo Resenha
Web of Science WOS:000241778500001

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