Figure 1.

Genomic organisation of KIAA2022 and location of mutations. Figure shows schematic presentation of known exon–intron organisation of KIAA2022. Exon size is at a scale apart from exon 4, for which the arrow indicates the continued size. Untranslated regions are indicated by grey colour, and the coding regions are indicated by blue colour. The boxes indicate the location and identity of the (previously) observed mutations in female (lower/red boxes) and previously reported mutations in male patients (upper/green boxes).