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KMID : 1189120090060010087
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대한의학유전학회지
2009 Volume.6 No. 1 p.87 ~ p.90
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A Case of Cardiofaciocutaneous Syndrome caused by BRAF Gene Mutation
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Lee Beom-Hee
Kim Gu-Hwan
Lee Jin-Joo
Kim Jae-Min
Yoo Han-Wook
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Abstract
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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.
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KEYWORD
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Noonan, Cardiofaciocutaneous, V-raf murine sarcoma viral oncogene homolog B1
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