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

Domenico Dell'Edera; Lucantonio Debellis; Angela Mitidieri; Annunziata Anna Epifania; Eustachio Cuscianna; Arianna Allegretti

doi:10.1002/ccr3.2729

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

Clin Case Rep. 2020 Feb 14;8(3):539-544. doi: 10.1002/ccr3.2729. eCollection 2020 Mar.

Authors

Domenico Dell'Edera¹, Lucantonio Debellis¹, Angela Mitidieri¹, Annunziata Anna Epifania¹, Eustachio Cuscianna¹, Arianna Allegretti¹

Affiliation

¹ Unit of Cytogenetic and Molecular Genetics "Madonna delle Grazie" Hospital Matera Italy.

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; DOCK8; cardiofaciocutaneous syndrome; multiple congenital anomaly; neurodevelopmental disorders.

Publication types

Case Reports