Case Report
Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3
Table 1
OMIM genes located in the deleted 10q26.2q26.3 region.
| Gene symbol | Gene title | Function | OMIM |
| DOCK1 | Dedicator of cytokinesis 1 | Cell migration, phagocytosis [7] | 601403 | PPP2R2D | Protein phosphatase 2, regulatory subunit B, and delta | Cause of developmental delay or intellectual disability [4] | 613992 | BNIP3 | BCL2/adenovirus E1B 19 kDa interacting protein 3 | Cause of developmental delay or intellectual disability [4] | 603293 | DPYSL4 | Dihydropyrimidinase-like 4 | Neuronal differentiation [3, 5] | 608407 | INPP5A | Inositol polysphosphate-5-phosphatase | Central nervous system development [2] | 600106 | GPR123 | G protein-coupled receptor 123 | Central nervous system development [2] | 612302 | ADAM8 | ADAM metallopeptidase domain 8 | Neurogenesis, muscle development [7] | 602267 | CALY | Calcyon neuron-specific vesicular protein | Vesicle trafficking-related functions [2] | 604647 |
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OMIM: Online Mendelian Inheritance in Man.
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