Supplementary Material for: <i>FOXD1</i> Duplication Causes Branchial Defects and Interacts with the <i>TFAP2A</i> Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish

Branchio-oculo-facial syndrome (BOFS) is a rare disorder characterized by maldevelopment of the first and second branchial arches, skin defects, facial dysmorphism, auricular, ophthalmological and oral abnormalities. A high clinical variability has been reported. Recently, mutations in <i>TFAP2A</i> were found to underlie this condition. A small duplication on 5q13 was detected in 2 family members with mild BOFS features. Molecular cytogenetic delineation of the duplication demonstrated that only 7 genes are affected: <i>LOC100289045, RGNEF, UTP15, ANKRA2, FUNDC2P1, BTF3</i> and <i>FOXD1</i>. The latter is expressed in the developing branchial arches and involved in cranio-facial development. Zebrafish embryos with combined inhibition of the expression of <i>foxd1l</i> and <i>tfap2a</i> show optic axis defects. We identified a novel locus associated with a mild BOFS-like phenotype. The functional in vivo experiments suggest an interaction between <i>FOXD1</i> and <i>TFAP2A</i>.