Cardiofaciocutaneous syndrome with rare structural variant in DOCK8 gene associated with neurodevelopmental disorders

Abstract

Abstract We describe a girl with clinical signs of cardiofaciocutaneous syndrome who simultaneously presents a mutation in the BRAF gene and a 9p24.3 microduplication. This genetic condition has never been described in the literature and could explain the phenotypic variability observed in the girl.

Keywords

• BRAF
• cardiofaciocutaneous syndrome
• DOCK8
• multiple congenital anomaly
• neurodevelopmental disorders