OMIA:002315-9615 : Dwarfism, pituitary, POU1F1-related in Canis lupus familiaris (dog)

Categories: Skeleton phene (incl. short stature & teeth)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 173110 (gene) , 613038 (trait)

Links to relevant human diseases in MONDO:

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: Karelian Bear Dog (Dog) (VBO_0200754), obsolete Carelian Beardogs (Dog) (VBO_0200292).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

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 Year Published PubMed ID(s) Acknowledgements
1291 Karelian Bear Dog (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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002315-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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