Fig. 2. Scheme of BCAP31 and flanking genes, showing large deletions of BCAP31 identified in patients of this study and in the literature.

On the top, non-CADDS patients, with deletions including BCAP31 and adjacent genes in 5′ (excluding ABCD1). On the bottom, CADDS patients with deletions including BCAP31 and ABCD1. Reference transcript: NM_001139441.1. Exons are numbered according to Cacciagli et al. [7] and correspond to transcript ENST00000458587.8.