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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 173110 , 613038

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 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."

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Karelian bear dog Pituitary dwarfism POU1F1 splicing 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
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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 :, 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