OMIA:002315-9615 : Dwarfism, pituitary, POU1F1-related in Canis lupus familiaris |
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 173110 (gene) , 613038 (trait)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Species-specific name: combined pituitary hormone deficiency dwarfism; hypopituitarism dwarfism
Species-specific description: see also OMIA 000307-9615: Dwarfism, pituitary, generic and OMIA 002314-9615 : Dwarfism, pituitary, LHX3-related in Canis lupus familiaris
Mapping: Kyöstilä et al. (2021) "obtained samples from five [Karelian bear dogs] KBDs presenting dwarfism and abnormal coats. A combined analysis of genome-wide association and next-generation sequencing mapped the disease to a region in chromosome 31 ... ."
Molecular basis: Kyöstilä et al. (2021) "identified a homozygous intronic variant in the fourth exon of the POU1F1 gene in the affected dogs. The identified variant, c.605-3C>A, resided in the splice region and was predicted to affect splicing. The variant’s screening in three new prospective cases, related breeds, and ~ 8000 dogs from 207 breeds indicated complete segregation in KBDs with a carrier frequency of 8%, and high breed-specificity as car-riers were found at a low frequency only in Lapponian Herders, a related breed."
Clinical features: Karelian bear dogs with the homozygous POU1F1 defect present with proportional dwarfism, being approximately 18cm smaller in height than unaffected KBDs (Andresen & Willeberg, 1976). Affected dogs either retain their puppy coat or appear to have a regular adult coat until around 2-3 years of age when their hair coat is almost completely lost (Andresen & Willeberg, 1976). Clinical presentations can be more severe with early onset neurological signs including seizures and blindness in puppies (Kyostila et al., 2021).
IT thanks DVM student Gemma Campbell, who provided the basis of this contribution in May 2023
Breeds: Carelian Beardogs, Karelian bear dog.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| POU1F1 | POU class 1 homeobox 1 | Canis lupus familiaris | 31 | NC_051835.1 (752910..771826) | POU1F1 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1291 | Karelian bear dog | Pituitary dwarfism | POU1F1 | splicing | Naturally occurring variant | CanFam3.1 | 31 | g.784534C>A | c.605-3C>A | Kyöstilä et al. (2021) "the NNSPLICE 0.9 splice prediction tool (Reese et al. 1997) predicted this variant to weaken the splice acceptor of POU1F1 intron 4 from a score of 0.97 to 0.67." | 2021 | 33550451 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2021 | Kyöstilä, K., Niskanen, J.E., Arumilli, M., Donner, J., Hytönen, M.K., Lohi, H. : |
| Intronic variant in POU1F1 associated with canine pituitary dwarfism. Hum Genet 140:1553-62, 2021. Pubmed reference: 33550451 . DOI: 10.1007/s00439-021-02259-2. | |
| 1977 | Andresen, E., Willeberg, P. : |
| Pituitary dwarfism in Carelian bear-dogs: evidence of simple, autosomal recessive inheritance. Hereditas 84:232-4, 1977. Pubmed reference: 838602 . |
Edit History
- Created by Imke Tammen2 on 05 Mar 2021
- Changed by Imke Tammen2 on 05 Mar 2021
- Changed by Imke Tammen2 on 18 May 2023