Genome and sequence context of deletion in SH3PXD2B. The upper panel shows a schematic representation (not to scale) of SH3PXD2B around the deleted region. Exons are shown as rectangles with coding sequence filled black and the 3′ UTR unfilled. Affected individuals were homozygous for a 7,625 bp deletion (double-headed red arrow). The breakpoint (dotted red lines) occurred at the position shown in the sequence chromatogram from patient 2, with an ambiguity of one nucleotide because a cytosine is located at both breakpoints. The lower panel shows the results of PCR with the primer pairs indicated. Individuals homozygous for the deletion failed to amplify using primer pair 12F/13-8R (upper gel image, 2,268 bp product); all family members yielded a truncated product using primer pair 12F/13-7R (lower gel image; non-deleted product would be 11,464 bp) indicating that unaffected family members are heterozygous for the deletion. C: control DNA from an unaffected, unrelated individual. N: negative control. The hg19 co-ordinates of the deleted region are chr5:171,763,754-171,771,378.
Bendon et al. BMC Medical Genetics 2012 13:104 doi:10.1186/1471-2350-13-104