Dwarfism, generic
- Phene ID
- 549
- Name
- Dwarfism, generic
- Phene Name
- N/A
- OMIA ID
- 299
- Species ID
- 9913
- Characterised
- No
- Characterised Year
- N/A
See also other entries for dwarfism in cattle, e.g. OMIA:002596-9913 Dwarfism, ANKRD28-related; OMIA:001985-9913 Dwarfism, Fleckvieh; OMIA:001473-9913 Dwarfism, growth-hormone deficiency; OMIA:000308-9913 Dwarfism, proportionate; OMIA:001271-9913 Dwarfism, ACAN-related; OMIA:001686-9913 Dwarfism, proportionate, with inflammatory lesions; OMIA:001294-9913 Dwarfism, growth-hormone-receptor deficiency; OMIA:001485-9913 Dwarfism, PRKG2-related; OMIA:001659-9913 Dwarfism, dominant; OMIA:000311-9913 Dwarfism, stumpy; OMIA:000310-9913 Dwarfism, snorter; OMIA:001323-9913 Dwarfism, GHR-related (Laron); OMIA:000570-9913 Joint laxity and dwarfism, congenital.
Jacinto et al. (2025) investigated multiple skeletal inherited disorders in cattle. Using a whole genome sequencing based approach multiple likely causal variants were identified. However, for two of the cases with primoridal proportionate dwarfism (in a Simmental and Holstein Friesian animal each) no likely causal variants were identified. In a third animal, a Simmental heifer with primoridal proportionate dwarfism "a heterozygous uncertain significance missense variant in exon 7 of PTPN9 has been identified and exchanges the encoded amino acid of PTPN9 at position 276, located in the protein-tyrosine phosphatase region (Chr21:g.33356490G > A; c.826G > A; p.Ala276Thr). The variant could be a de novo mutation, but the lack of parental DNA did not allow us to investigate this further." A fourth case was a Limousin x Brown Swiss crossbred calf with primordial proportionate dwarfism for which "a heterozygous likely pathogenic missense variant in exon 24 of ABCC8 was identified. This candidate variant of uncertain significance leads to an amino acid [change] in the ATP-binding cassette transporter C region of ABCC8 (Chr15:g.35095352A > G; c.2875A > G; p.Met959Val). This could be a de novo mutation but lacking parental DNA we were unable to prove this."