Figure 3

Map of known mutations in the RECQL4 gene (exons are indicated by boxes and introns by interconnecting lines) in RTS (black), RAPADILINO (purple) and BGS (blue) patients. Yellow identifies the exons encoding the helicase domain. Intronic deletions and splice site mutations are grouped above, while frameshift, missense and stop mutations are grouped below the graphic representation of the gene. Bold characters indicate mutations shared by RTS and RAPADILINO (#), RTS and BGS (*) and by RTS, RAPADILINO and BGS (framed).