Table 3 Summary of the genes included in the deleted area of our case. Function and disease association of the genes, pLI and haploinsufficiency score and OMIM number are provided
Gene symbol | Function | Disease association | pLI score | Haploinsufficiency score | OMIM reference |
|---|---|---|---|---|---|
ATX1 | RNA and protein binding; transcriptional repressor activity | Spinocerebellar ataxia type 1 | 0.97 | 5,05 | 601,556 |
CAP2 | Actin-binding protein | Human hepatocellular carcinoma | 0.70 | 40,60 | 618,385 |
DEK | Chromatin-remodeling | Cancer biology, autoimmune diseases, cognitive function | 0.06 | 4,88 | 125,264 |
FAM8A1 | NA | NA | 0.02 | 59,65 | 618,409 |
GMPR | Maintaining the intracellular balance of A and G nucleotides | Progressive external ophthalmoplegia | 0.00 | 30,36 | 139,265 |
KDM1B | Lysine demethylase 1B | Flavin-dependent histone demethylases regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function | 0.00 | 35,23 | 613,081 |
KIF13A | Intracellular transport, neuronal signal transduction | NA | 1.00 | 42,26 | 605,433 |
MYLIP | Protein–protein interaction,cell signaling, cholesterol metabolism, inhibition of neurite outgrowth | NA | 0.18 | 34,06 | 610,082 |
NHLRC1 | E3 ubiquitin ligase activity | Myoclonic epilepsy of Lafora | 0.09 | 57,05 | 608,072 |
NUP153 | Mediate the regulated movement of macromolecules between the nucleus and cytoplasm | NA | 1.00 | 24,39 | 603,948 |
RMB24 | Regulation of pre-mRNA splicing, mRNA stability and mRNA translation important for cell fate decision and differentiation | NA | 0.09 | 41,96 | 617,605 |
STMND1 | NA | NA | 0.00 | 80,55 | NA |
TPMT | S-methylation of aromatic and heterocyclic sulphydryl compounds | NA | 0.00 | 65,83 | 187,680 |