Document Detail

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.
MedLine Citation:
PMID:  17468812     Owner:  NLM     Status:  MEDLINE    
Costello syndrome is an autosomal dominant disorder comprising growth deficiency, mental retardation, curly hair, coarse facial features, nasal papillomata, low-set ears with large lobes, cardiac anomalies, redundant skin in palms and soles with prominent creases, dark skin, and propensity to certain solid tumors. HRAS mutations have been implicated in approximately 85% of the affected cases. The clinical overlap among Costello, Noonan, and cardiofaciocutaneous syndromes is now better understood given their common molecular background, such that all these syndromes constitute a class of disorders caused by deregulated RAS-MAPK signaling. We report on a novel KRAS gene mutation in a patient presenting the clinical features typical of Costello syndrome and the additional findings seen in Noonan syndrome. This description emphasizes that a subset of patients with Costello syndrome could harbor mutations in other genes involved in the RAS-MAPK signaling.
Débora Romeo Bertola; Alexandre Costa Pereira; Amanda Salem Brasil; Lilian Maria José Albano; Chong Ae Kim; José Eduardo Krieger
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-04-28
Journal Detail:
Title:  Journal of human genetics     Volume:  52     ISSN:  1434-5161     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2007  
Date Detail:
Created Date:  2007-05-28     Completed Date:  2007-07-20     Revised Date:  2007-08-13    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  521-6     Citation Subset:  IM    
Department of Pediatrics, Instituto da Criança, HC, University of São Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, Cerqueira César, 05403-900, São Paulo, SP, Brazil.
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MeSH Terms
Abnormalities, Multiple / genetics*
Craniofacial Abnormalities / genetics*
Genes, ras*
Genetic Heterogeneity*
Mental Retardation / genetics*
Noonan Syndrome / genetics

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