Table 2 Function of genes of significance localized in the regions 7p15.3- > pter and Xq21.1 found to be altered in microarray analysis.
Cytoband | Gene | Function |
|---|---|---|
7p15.3 | NPY | Encodes a neuropeptide, widely expressed in the brain and autonomic nervous system, which functions through G protein-coupled receptors to inhibit adenylate cyclase, activate mitogen-activated protein kinase, regulate intracellular calcium levels and activate potassium channels, thus have an effect on neuronal excitability and synaptic transmission. |
7p21.1 | FERD3L | Its protein is expressed in the developing CNS and functions as a transcriptional inhibitor, thus a negative regulator of neurogenesis [47]. |
7p21.1-p21.2 | TWIST1 | Acts as a transcriptional regulator and is involved in membranous ossification occurring during frontal, parietal, and malar bone formation; triple dosage of this gene might be responsible the delayed closure of a large anterior fontanelle. |
7p22.1 | RADIL | Downstream effector of Rap required for cell adhesion and migration of neural crest precursors during development |
7p22.1 | DAGLB | Required for axonal growth during development and for retrograde synaptic signalling at mature synapses [48]. |
Xq21.1 | P2RY10 | P2Y receptors are G-protein-coupled receptors and their activation initiates a wide range of signaling cascades including PLCbeta, PLD, PLA2, AC and MAPK/MEK kinase. They have diverse physiological roles including regulation of platelet aggregation, muscle contraction, neurotransmission and epithelial cell communication and migration. |
Xq21.1 | BRWD3 | Mutations in BRWD3 cause mental retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. |