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Pituitary Dwarfism (CPHD) - Karelian Bear Dog Type
| Acronym: | CPHD |
| Gene: | POU1F1 |
| Mutation: | c.605-3C>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Pituitary Dwarfism in dogs is a genetic disorder caused by abnormal development or function of the anterior pituitary gland and is characterized by the abnormal growth, development, and remodeling of bones and cartilage. The anterior pituitary gland secretes several endocrine hormones, essential for growth, reproduction, and other basic physiological functions. The lack of one of those hormones, growth hormone (GH), leads to abnormal growth and coat abnormalities. In dogs, pituitary dwarfism has been reported in German Shepherds and Karelian Bear Dogs (KBD) so far. The type found in KBDs is caused by a specific mutation in the Pituitary-specific transcription factor (POU1F1) gene. POU1F1 encodes for a protein that plays an important role in the regulation of mammalian development and the expression of several genes involved in pituitary development and hormone expression.
Dwarfism that is a consequence of a pituitary dysfunction found in Karelian Bear dogs is inherited as an autosomal recessive trait meaning both copies of the mutated gene are required for the disease to develop. Dogs with only one mutated gene copy will not show signs of abnormal growth, 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:
Kyöstilä, K., Niskanen, J. E., Arumilli, M., Donner, J., Hytönen, M. K., Lohi, H. (2021). Intronic variant in POU1F1 associated with canine pituitary dwarfism. Human genetics, 140(11), 1553–1562. https://doi.org/10.1007/s00439-021-02259-2
Andresen, E., Willeberg, P. (1977). Pituitary dwarfism in Carelian bear-dogs: evidence of simple, autosomal recessive inheritance. Hereditas, 84(2), 232–234. https://doi.org/10.1111/j.1601-5223.1977.tb01400.x