Title of article :
A Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome
Author/Authors :
Hazan, Filiz Dr. Behcet Uz Children's Hospital - Izmir - Turkey , Karaca, Emin Dr. Behcet Uz Children's Hospital - Izmir - Turkey , Koker, Sultan Aydin Dr. Behcet Uz Children's Hospital - Izmir - Turkey , Korkmaz, Huseyin Anil Dr. Behcet Uz Children's Hospital - Izmir - Turkey , Mese, Timur Dr. Behcet Uz Children's Hospital - Izmir - Turkey , Onay, Huseyin Dr. Behcet Uz Children's Hospital - Izmir - Turkey , Ozkinay, Ferda Dr. Behcet Uz Children's Hospital - Izmir - Turkey
Pages :
2
From page :
608
To page :
609
Abstract :
Cardiofaciocutaneous syndrome (CFC) is a multiple congenital anomaly syndrome characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay[1]. CFC is caused by mutations in BRAF, MEK1, MEK2, KRAS genes encoding proteins of the RAS/MAPK signaling pathway. In more than 70% of CFC patients, BRAF mutations are detected[2]. We present here a 10-year-old boy who was referred to the department of Medical Genetics for dysmorphological evaluation because of severe developmental delay, short stature and dysmorphic features. He was the third child of healthy, non-consanguineous Turkish parents. His parents and two siblings were healthy. He was born at term after an uneventful pregnancy. His birth weight was 3000 g (10-25th centile), height 50 cm (50th centile). His developmental milestones were globally delayed.
Keywords :
A Novel Missense , Mutation in BRAF , Caused Cardio-Facio-Cutaneous , Syndrome
Journal title :
Astroparticle Physics
Serial Year :
2013
Record number :
2443890
Link To Document :
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