A Case of Cardiofaciocutaneous Syndrome caused by BRAF gene mutation
Journal of Genetic Medicine
; : 87-90, 2009.
Article
em Ko
| WPRIM
| ID: wpr-72321
Biblioteca responsável:
WPRO
ABSTRACT
Cardiofaciocutaneous (CFC) syndrome is characterized by dysmorphic features, cardiac anomalies, and cutaneous abnormalities. CFC syndrome belongs to the class of Noonan-related diseases. CFC syndrome can be clinically differentiated from other Noonan-related diseases by the distinct craniofacial features of sparse hair, a hypoplastic supraorbital ridge, exophthalmos and nystagmus, and skin manifestations such as ichthyosis and hyperkeratosis. However, phenotypes can overlap among Noonan-related syndromes, including CFC syndrome. Recently, several genes in the RAS-MAPK pathway have been identified as disease-causing genes for Noonan-related diseases. Here, we report on a Korean girl diagnosed with CFC syndrome caused by a V-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene mutation, and we discuss the phenotype-genotype heterogeneities in Noonan syndrome and Noonan-related diseases.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Oncogenes
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Fenótipo
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Sarcoma
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Manifestações Cutâneas
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Displasia Ectodérmica
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Exoftalmia
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Fácies
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Insuficiência de Crescimento
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Cabelo
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Cardiopatias Congênitas
Idioma:
Ko
Revista:
Journal of Genetic Medicine
Ano de publicação:
2009
Tipo de documento:
Article