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. 2015 Jun 2;3(6):490–499. doi: 10.1002/mgg3.159

Figure 1.

Figure 1

Identification and characterization of del(10)(p13) involving the CCDC3 and OPTN gene regions. (A) Affymetrix Genotyping Console view showing the deletion of the 10p13 region identified in Patient 1 (red arrow); the entire chromosome 10 results are shown as well as an enlargement of the deleted area. The UCSC Genome Browser (http://genome.ucsc.edu) view of the deleted region indicating the positions of genes is included; positions of TaqMan probes (Table S1) are indicated with gray (diploid status) and red (haploid status) circles; positions of assays included in (b) are indicated with arrows. (B) Results of copy number analysis via TaqMan assays for Patient 1 as well as his mother and father; deletion status is also noted on the pedigree shown on the right. (C) DNA sequence across breakpoint for the deleted allele. Sequences of the OPTN promoter, the 37‐repeat and CCDC3 intron 2 are indicated; reference sequences NM_001008211.1 (OPTN) and NM_031455.3 (CCDC3) were used. The nonhomologous recombination mechanism likely involved in the generation of the deleted allele is depicted in a schematic drawing on the right.