OMIA:002596-9913 : Dwarfism, ANKRD28-related in Bos taurus (taurine cattle)
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s) (MIM number): 611122 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Molecular basis: Jacinto et al. (2022) propose that a dominant de novo mutation in the ANKRD28 gene is the causal variant in the single reported calf. "This heterozygous variant at chr1:152807533C>CA represents a 1‐bp insertion in exon 2 of the ANKRD28 gene that directly affect the translation initiation (start) codon (XM_024989836.1: c.2dupT; ...). The predicted consequence of this start‐lost variant is that amino acid Met1 is converted to Leu after activation of an upstream translation initiation site at cDNA position −20, resulting in N‐terminal protein extension by insertion of six amino acids between Met1 and Gly2 (XP_024845604.1: p.Met1_Gly2insIleValGlyGlyLysAlaLeu)." The authors conclude that as "this is a single case study and we have no functional confirmation, this result must be considered preliminary and should be interpreted with caution."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Jacinto et al. (2022): "A 3.5‐month‐old, female, purebred Holstein calf was reported because of its short stature, protruding scapulohumeral joints, increased concavity of the frontal bone, and bossing of the intercornual prominence ...."
Holstein Friesian (Cattle) (VBO_0000239).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
|2022||Jacinto, J.G.P., Häfliger, I.M., Baes, C.F., de Oliveira, H.R., Drögemüller, C. :|
|A de novo start-lost variant in ANKRD28 in a Holstein calf with dwarfism. Anim Genet 53:470-471, 2022. Pubmed reference: 35451514. DOI: 10.1111/age.13204.|
- Created by Imke Tammen2 on 16 Nov 2022
- Changed by Imke Tammen2 on 16 Nov 2022