Figure 3.

(a) Chromatogram of Sanger sequencing. The arrow shows the c.1365del mutation in the CREB3L1 gene (NM_052854.3), indicating the deletion of a cytosine in patient II‐5. (b) Schematic presentation of the CREB3L1 protein showing the location of the reported mutations in four families with OI. The diagram presents the 12 exons of this protein and the first exon of the gene DGKZ. Black boxes indicate exons, grey boxes indicate 5′and 3′untranslated regions whereas the dotted line indicates intragenic regions