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. Author manuscript; available in PMC: 2019 Jan 1.
Published in final edited form as: Am J Med Genet A. 2017 Nov 12;176(1):241–245. doi: 10.1002/ajmg.a.38517

Figure 2.

Figure 2

Figure 2

SNP array demonstrating the homozygous deletion of DOCK3. (A) SNP array analysis revealed a 43.3 Mb region of homozygosity (ROH) on chromosome 3, and captured a 170 kb homozygous deletion within this ROH. Rectangular box demotes the ROH, and arrow indicates the homozygous deletion. (B) Close up view of the SNP array result. Rectangular box indicates the 170 kb homozygous deletion disrupting only DOCK3 gene. (C) Schmatic showing DOCK3 domain structure with mutations reported in this study and Helbig et al., (2017). Domains including SH3 (Src Homology 3), DHR (DOCK homology region) 1, DHR2 and proline-rich region (PxxP) are indicated. Double arrows indicate deletions and arrowheads indicate predicted stop codons. The 458 kb deletion reported in Helbig et al. begins in exon 2, continues through the 3’UTR, and ends in adjacent downstream genomic region.