Genetics
This condition is an autosomal recessive genetic disorder, which means the defective gene is located on an autosome, and both parents must carry one copy of the defective gene in order to have a child born with the disorder. Carriers of a recessive gene usually do not show any signs or symptoms of the disorder.
One form of ichthyosis lamellaris (LI1) is associated with a deficiency of the enzyme keratinocyte transglutaminase.
Genes involved include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| LI1 | 242300 | TGM1 | 14 |
| LI2 | 601277 | ABCA12 | 2q34 |
| LI3 | 604777 | CYP4F22 | 9p13.12 |
| LI5 | 606545 | ? | 17p |
Read more about this topic: Lamellar Ichthyosis