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Leukoencephalopathy (LEP) / Leukodystrophy (LD) - Schnauzer Type
| Acronym: | LEP |
| Gene: | TSEN54 |
| Mutation: | c.371G>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Leukoencephalopathy (LEP) or Leukodystrophy (LD) is a genetic disease affecting the white matter of the central nervous system (CNS) in humans and dogs. Different types of leukodystrophies have been described in many different dog breeds, but LEP has been recently studied and characterized in Schnauzer puppies. A severe reduction of myelin formation and edema were detected in affected puppies before they were 4 moths of age. The cause of this severe CNS disease is a variant in TSEN54 gene encoding one subunit of the tRNA splicing endonuclease. This enyzme has a crucial role in the maturation of tRNAs that are part of protein synthesis in cells.
Leukodystrophy (LD) in Schnauzer is inherited as an autosomal recessive trait meaning two copies of the mutated gene are required for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early detection by genetic testing can identify carriers so that the unintentional breeding of affected dogs can be avoided in the future.
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:
Störk, T., Nessler, J., Anderegg, L., Hünerfauth, E., Schmutz, I., Jagannathan, V., Kyöstilä, K., Lohi, H., Baumgärtner, W., Tipold, A., & Leeb, T. (2019). TSEN54 missense variant in Standard Schnauzers with leukodystrophy. PLoS genetics, 15(10), e1008411. https://doi.org/10.1371/journal.pgen.1008411