Recently, deletions have been identified and published as causal for Familial Adenomatous Polyposis in the 1B promoter region of the APC gene. Those deletions were measured using multiplex ligation-dependent probe amplification. Here, we present and characterize an ~11kb deletion identified by whole genome shotgun sequencing. The deletion occurred in a patient diagnosed with Familial Adenomatous Polyposis, and was located on chr5, between bases 112,034,824 and 112,045,845, fully encompassing the 1B promoter region of the APC gene. Results are presented here that include the sequence evidence supporting the presence of the deletion as well as base level characterization of the deletion site. These results demonstrate the capacity of whole genome sequencing for the detection of large structural variants in single individuals.
Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis
