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. 2015 May 4;7(1):42. doi: 10.1186/s13073-015-0148-0

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© Lin et al.; licensee BioMed Central. 2015

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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The ~11 kb APC deletion is found in two other APC mutation-negative kindreds. (A, C) Affected members of kindreds 0130 and 0163 have the classical FAP phenotype, and standard genetic testing of probands IV-1 in kindred 0130 and III-2 in kindred 0163 (arrows) did not identify known pathologic mutations of APC. Second-generation sequencing across the APC locus in the probands suggested that both had the same heterozygous ~11 kb APC deletion found in the index kindred 0124. Sanger sequencing using primer 3 confirmed the presence of the same deletion coordinates from chr5:112,034,825 to chr5:112,045,846 in the probands 0130 (IV-1) (B) and 0163 (III-2) (D). Sequencing using primer 2 in both probands showed the presence of a normal allele as well, with contiguous coordinates from chr5:112,034,825 to chr5:112,034,826.