In other species: taurine cattle

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

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601591 (gene)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2021

Cross-species summary: 'Dwarfism, Angus' was renamed to 'Dwarfism, PRKG2-related' [29/10/2021]

Inheritance: Rudd Garces et al. (2021) reported evidence consistent with autosomal recessive inheritance.

Mapping: Rudd Garces et al. (2021): "... combined linkage and homozygosity mapping assigned the most likely position of a potential genetic defect to 34 genome segments, totaling 125 Mb."

Molecular basis: Rudd Garces et al. (2021): "The genome of an affected dog was sequenced and compared to 795 control genomes. The prioritization of private variants revealed a clear top candidate variant for the observed dwarfism. This variant, PRKG2:XM_022413533.1:c.1634+1G>T [omia.variant:1373], affects the splice donor site and is therefore predicted to disrupt the function of the PKRG2 gene .... "
Mäkeläinen et al. (2025) "applied whole-genome sequencing on samples [of affected Dalmatians] collected in 1992 and identified a genetic variant in the PRKG2 gene, introducing a premature stop codon (XM_038582312: c.1601T > G, p.L534X) [omia.variant:1857]. ... Extended screening of the genetic variant revealed its continued segregation in the current Dalmatian population."

Clinical features: Rudd Garces et al. (2021) "investigated a family of nine Dogo Argentino dogs, in which two dogs were affected by disproportionate dwarfism. Radiographs of an affected dog revealed a decreased level of endochondral ossification in its growth plates, and a premature closure of the distal ulnar physes."
Mäkeläinen et al. (2025): "affected [Dalmation] dogs had short legs and showed clear gait abnormalities. The front legs were curved with an outward-angled elbow joint and an outward rotation of the paw. Due to the severity of the condition, the affected dogs were euthanized ...."

Pathology: Mäkeläinen et al. (2025): "Microscopically, the growth plates of the distal ulna and radius [of affected Dalmation dogs] were irregular showing disorganized areas of resting, proliferative and hypertrophic zones ... ."

Breeds: Dalmatian (Dog) (VBO_0200427), Dogo Argentino (Dog) (VBO_0200445).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: