Schematic representation of the novel RP1 mutations. (A) Overview of chromosome 8. RP1 is mapped on region 8q12.1 (green bar). (B) Gene structure of RP1 gene containing 4 exons. The position of identified variants is stated with a broken line. Coding exons are shown as filled boxes while unfilled boxes reflect UTRs. (C) Electropherograms of patient II:5 showing the heterozygous mutations in exon 4 of RP1 gene. (D) RP1 protein representation with two doublecortin domains (DCX) marked in green, and the location of variants indicated by a broken line.