Fig. 2

Comparative deletion mapping of patients with CNVs at 1p31.3p32.2. The genes located within this interval are displayed. Microdeletions are represented by solid red bars while microduplications are displayed in blue. Patients with CNVs from the DECIPHER database (Firth et al., 2009) are denoted by ‘DCP’ followed by the reference number. The sizes of the deleted regions in Rao 2014, Lu 2007 (DGAP174), Koehler 2010, Kehrer 2015, Campbell 2002 (DGAP205-1), Ji 2014 and seven DECIPHER cases relative to our patient (DGDP005) are displayed. Four CNVs (DCPP274057, DCP260253, DCP288170, Rao 2014) have only NFIA disrupted implying that it is causative gene in all four patients. Patient DCP285169 with a 419 kb duplication including the second half of NFIA presents with language delay, impaired social interactions, and delayed motor development. But he also has an additional 2.07 Mb microdeletion at 15q13. The microdeletion in patient DCP300407 does not include NFIA, yet the patient displays cognitive impairment, suggesting the likely contribution of HOOK1. Two microdeletions (Ji 2014 and Campbell 2002) extend beyond the 1p32.2 and 1p31.3 interval. Vertical lines in blue represent the proximal and distal boundaries of the microdeletion in DGDP005. Two orange lines are refined candidate gene region overlapping eight microdeletions including DCP300407. Two vertical black lines depict narrowed candidate region among 5 small CNVs [4 DCP cases and patient of Rao et al. (2014)]. Asterisk denotes candidate genes in this region