J Genet Med.  2009 Jun;6(1):87-90.

A Case of Cardiofaciocutaneous Syndrome caused by BRAF gene mutation

Affiliations
  • 1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
  • 2Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 3Genome Research Center for Birth, Defects and Genetic Diseases, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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.

Keyword

Noonan; Cardiofaciocutaneous; V-raf murine sarcoma viral oncogene homolog B1
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