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Color dilution and neurological defects (CDN) - Dachshund Type
| Acronym: | CDN |
| Gene: | MYO5A |
| Mutation: | c.4973_4974insA |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Color dilution and neurological defects (CDN) in dogs is a common genetic disorder often found in other animals and humans as well. CDN affects different dog breeds, but it has been mostly studied in Dachshund dogs. Dermatological and neurological signs are caused by a frameshift variant in MYO5A, a gene coding for myosin which results in an impaired melanosome transport within melanocytes. MYO5A loss of function variants cause Griscelli type 1 syndrome in humans and lavender foal in horses. In dogs it causes an accumulation of melanin and keratin within the hair follicles changing the coat color and defects in head holding and coordination and balance.
This color dilution and neurological defects are 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 and help breeders in selecting future 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:
Christen, M., de le Roi, M., Jagannathan, V., Becker, K., Leeb, T. (2021). MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1. Genes, 12(10), 1479. https://doi.org/10.3390/genes12101479