PMC5726891_01
PMC5726891_02
Facial profile of the proband at 2 years and 4 months. Note bilateral epicanthal folds, upturned nasal tip/anteverted nares, and prominent cheeks.
nihms919880f1.jpg
PMC5726891_02_nihms919880f1.jpg
F1
His dysmorphic facial features include bilateral epicanthal folds, upturned nasal tip/anteverted nares, and prominent cheeks (Figure 1).
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. 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.
nihms919880f2b.jpg
PMC5726891_02_nihms919880f2b.jpg
F2
SNP microarray revealed 11 regions of homozygosity greater than 3 Mb in size, and it detected a 170 kb homozygous deletion including exons 6-12 of the DOCK3 gene at 3p21.2 (arr[hg19] 3p21.2(51,062,402-51,232,768)x0) (Figure 2).