[Table/Fig-7]:
List of genes at the translocation breakpoints reported in this study [20].
| Gene | Band | Role | Phenotype |
|---|---|---|---|
| ANKH | 5p15.1 | Multipass transmembrane Protein | Craniometaphyseal dysplasia - AD |
| PAX4 | 7q32 | Transcription Factors
|
|
| STAR | 8p11.2 | Acute regulation of steroid hormone synthesis | Congenital adrenal hyperplasia |
| ERlIN2 | 8p11.2 | SPFH domain-containing family of lipid raft-associated proteins | Spastic paraplegia-18 |
| ADAM2 | 8p11.2 | Cell-cell interaction & cell-cell matrix interaction
|
|
| CBL | 11q23.3 | Proto-oncogene | Noonan syndrome-like disorder |
| APOC 3 | 11q23.3 | Apolipoprotein C III | Hypertriglyceridemia due to increased expression |
| ETS1 | 11q23.3 |
ETS family of transcription factors (activator/repressor)
|
|
| HMBS | 11q23.3 | Hydroxymethlylibane super family | Acute intermittent porphyria – AD |
| PVRL1 | 11q23.3 | Adhesion protein | Cleft lip and palate/ ectodermal dysplasia 1 syndrome |
| TMPRSS4 | 11q23.3 | Serine protease family | Multiple human diseases and disorders due to malfunction |
| C1QTNF5 | 11q23.3 | Cell adhesion | Late onset retinal degeneration |
| DPAGT1 | 11q23.3 | Catalytic enzyme | Congenital disorder of glycosylation type Ij |
| CEP164 | 11q23.3 | Centrosomal protein
|
|
| ARCN1 | 11q23.3 | Intra-cellular protein | Multiple disease-associated chromosome translocations |