Schematic representation of the genomic deletion. (Top) Schematic out-of-scale representation of protein 4.1 gene. Tentative boundaries of the genomic deletion are depicted. (▪) Genomic deletion encompassing exons 2 to 12. (□) 5′ and 3′ endpoints located downstream from exon 1 and in a 1-kb stretch upstream from exon 13, respectively. (Middle) Schematic representation of 4.1 Annecy gene. (Bottom) Representation of the shortened 4.1 Annecy mRNA. For schematic representation of exons, see Fig 1.