Table 2.
Results of whole exome sequencing
| Inheritance pattern | Gene | Exonic function | Relation in disease or functions | OMIM | Reference |
|---|---|---|---|---|---|
| Autosomal recessive | PER3 | Non-frame shift deletion |
FASPS3 | 616,882 | Zhang et al. |
| LNP1 | Non-frame shift insertion |
unknown | – | – | |
| FADS6 | Non-frame shift insertion |
Fatty acid metabolism | – | – | |
| Compound heterozygote | ABCA2 | Missense/missense | Macrophage lipid metabolism |
– | Kaminski et al. |
| MYO15A | Missense/Non-frame shift deletion | DFNB3 | 600,316 | Wang et al., Liburd et al., Riahi et al. |