Table 1.
Genes deleted in the 4p15.2-14 region in the presented case.
| Gene | OMIM | Protein/Transcript Name | Function/Dysfunction of Gene Product |
|---|---|---|---|
| PPARGC1A | 604,517 | Peroxisome proliferative activated receptor γ | Transcriptional coactivator for steroid receptors and nuclear receptors |
| DHX15 | 603,403 | DEAH box polypeptide 15 | Nuclear ATP-dependent helicase |
| SOD3 | 185,490 | Superoxide dismutase 3 | Free radical detoxification |
| LGI2 | 608,301 | Leucine-rich glioma inactivated protein 2 | May be involved in axonal path finding |
| SEPSECS | 613,009 | O-phosphoserin tRNA-selenocystein tRNA synthase | Pontocerebellar hypoplasia type 2D (AR) |
| PI4K2B | 612,101 | Phosphatidylinositol 4-kinase type 2 β | Phosphatidylinositol 4-kinase type 2 β |
| ZCCHC4 | 611,792 | Zinc finger CCHC domain-containing protein 4 | May be a methyltransferase |
| ANAPC4 | 606,947 | Anaphase-promoting complex subunit 4 | Component of anaphase-promoting complex/cyclosome, a cell cycle-regulated E3 ubiquitin ligase and the G1 phase of the cell cycle |
| SLC34A2 | 604,217 | Sollute carrier family 34 (sodium, phosphate cotransporter) member 2 | Testicular microlithiasis. Pulmonary alveolar microlithiasisy (AR) |
| RBPJ | 147,183 | Recombination signal-binding protein for kappa J region | Adam-Oliver syndrome 3 (AD) |
| CCKAR | 118,444 | Colecystokinin A receptor | Receptor for cholecystokinin with role in colecystokinin induced regulation of satiety |
| PCDH7 | 602,988 | Procadherin 7 isoform c precursor | Mediation of calcium dependent cell-cell adhesion expressed predominantly in SNC |
| STIM2 | 610,841 | Stromal interaction molecule 2 | Regulation of basal cytosolic and endoplasmic reticulum Ca2+ concentrations |
| SMIM20 | 617,465 | Small Integral Membrane Protein 20 | Component of the MITRAC complex that regulates cytochrome C oxidase assembly |
| ARAP2 | 606,645 | Centaurin, Delta-1 | Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members |
| DTHD1 | 616,979 | Death Domain-containing protein 1 | Death domain containing proteins function in signaling pathways and formation of signaling complexes, as well as the apoptosis pathway |