Table 1.
Affected genes in our patient, that is, the genes in the deletions and duplications of our patient in chromosomal bands 10p15.5‐p15.1, 3p26.3‐p26.2, and 6q22
| Gene | Copy number variant region | Function |
|---|---|---|
| ZMYND11 | 10p15.5‐p15.1 | Nuclear protein, variant‐specific methylated histone reader that may fine‐tune gene expression via transcription regulation. |
| IDI1 | 10p15.5‐p15.1 | Peroxisomal enzyme isopentenyl‐diphosphate δ‐isomerase 1 involved in cholesterol and fatty acid synthesis |
| ADARB2 | 10p15.5‐p15.1 | Ribosomal nucleic acid editing enzyme, which possibly plays a role in the regulation of substrate‐specific RNA editing within the brain. |
| CHL1 | 3p26.3‐p26.2 | Adhesion molecule, which may regulate synaptic vesicle recycling, neuronal migration, and neurite growth in the developing brain. |
| CRBN | 3p26.3‐p26.2 | Regulates adenosine monophosphate‐activated protein kinase and new protein synthesis via the mammalian target of rapamycin signaling pathway |
| CNTN6 | 3p26.3‐p26.2 | Neural adhesion molecule of the contactin subgroup expressed in cortical neurons via excitatory glutamate synapses in the cerebellum and hippocampus |
| CNTN4 | 3p26.3‐p26.2 | Contactin neural adhesion molecule, which has been associated with spinocerebellar ataxia type 16 |
| DIP2C | 10p15.5‐p15.1 | Is expressed in the nervous system with unknown specific function |
| PLN | 6q22 | A calcium cycling protein and mediator of the β‐adrenergic effect, which has been associated with idiopathic dilated cardiomyopathy. |
| KLF6 | 10p15.5‐p15.1 | A zinc finger‐containing transcription factor and tumor suppressor. Mutations occur in prostate, colon, hepatocellular and gastric carcinomas, and astrocytic gliomas. |
| AKR1C2 | 10p15.5‐p15.1 | Mutations are associated with androgen biosynthesis defects causing 46XY disorders of sexual development and differentiation. |
| AKR1C3 | 10p15.5‐p15.1 | May precipitate castrate‐resistant prostate cancer |
| AKR1E2 | 10p15.5‐p15.1 | A potential candidate gene for pediatric cataracts. |
| IL5RA | 3p26.3‐p26.2 | Associated with sporadic Immunoglobulin A nephropathy. |
| LRRN1 | 3p26.3‐p26.2 | This gene is highly expressed in neuroblastomas with poor clinical outcome. |
| SUMF1 | 3p26.3‐p26.2 | Encodes alpha—formylglycine‐generating enzyme causes multiple sulfatase deficiency. |