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Congenital Lamellar Ichtyosis Great Dane Type
| Acronym: | CLIGDT |
| Gene: | SLC27A4 |
| Mutation: | c.1250G>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Congenital lamellar ichthyosis is a heterogeneous group of genetic diseases characterized by abnormal differentiation (cornification) of the epidermis. Several forms of ichthyosis have been described in dogs so far and all of these disorders share an inability to correctly form the outermost layer of the epidermis—the stratum corneum. Ichthyosis is characterized by dry and scaling skin and bad coat quality on the entire body and is detected shortly after birth. The scaling skin does not affect life expectancy but can cause severe discomfort to the dog if not treated and may lead to secondary infections and inflammatory skin lesions. In Great Dane dogs, lamellar ichthyosis was shown to be associated with a mutation in the SLC27A4 gene that encodes a member of a family of fatty acid transport proteins, which are involved in the translocation of long-chain fatty acids across the plasma membrane.
This form of ichthyosis found in Great Dane dogs is inherited as an autosomal recessive trait, requiring both copies of the mutated gene for the disease to develop. Dogs with only one mutated gene copy will not develop the disease, but may potentially pass the mutation to their offspring. Early genetic testing can help identify dogs that carry the gene with the specific mutation and prevent their further breeding by the proper selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Metzger, J., Wöhlke, A., Mischke, R., Hoffmann, A., Hewicker-Trautwein, M., Küch, E. M., Naim, H. Y., Distl, O. (2015). A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis. PloS one, 10(10), e0141514. https://doi.org/10.1371/journal.pone.0141514
Hoffmann, A., Metzger, J., Wöhlke, A., Peters, M., Junginger, J., Mischke, R., Distl, O., Hewicker-Trautwein, M. (2016). Congenital Ichthyosis in 14 Great Dane Puppies With a New Presentation. Veterinary pathology, 53(3), 614–620. https://doi.org/10.1177/0300985815595516