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. |