A Case of Cardiofaciocutaneous Syndrome caused by BRAF gene mutation
Journal of Genetic Medicine
; : 87-90, 2009.
Article
in Ko
| WPRIM
| ID: wpr-72321
Responsible library:
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Oncogenes
/
Phenotype
/
Sarcoma
/
Skin Manifestations
/
Ectodermal Dysplasia
/
Exophthalmos
/
Facies
/
Failure to Thrive
/
Hair
/
Heart Defects, Congenital
Language:
Ko
Journal:
Journal of Genetic Medicine
Year:
2009
Type:
Article