1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay

Abstract

We identified a novel 1.39 Mb interstitial deletion of chromosome 12p13.33 in an 8 year-old Caucasian female propositus and her affected father and brother using microarray-based comparative genomic hybridization (aCGH). They share a history of developmental delay and staring episodes. The deleted region contains eight annotated genes (ERC1, FBXL14, WNT5B, ADIPOR2, CACNA2D4, LRTM2, DCP1B, and CACNA1C). Hemizygous deletions of ERC1, FBXL14, or WNT5B genes may be involved in the development of neurological disorders in these individuals. Furthermore, the centromeric breakpoint of the 1.39 Mb deleted region is the same as the centromeric breakpoint of a 2.3 Mb terminal deletion of 12p13.33 reported recently, indicating the presence of an unstable structure near the breakpoint facilitating recurrent genomic rearrangements.