Phenotypes

Information about ACAN related dwarfism in Bos indicus cattle was previously listed here and was moved to 'OMIA:001271-9915 : Dwarfism, ACAN-related in Bos indicus' [19/06/2023]

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 activa...

Gregory and Spahr (1979) report a purebred Charolais sire of normal phenotype who produced miniature male and female progeny at a rate less then 50% when bred to Charolais females or females from different breeds. A dominant mode of inheritance due to a possible do novo germline variant in the bull was proposed by the authors.

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; OM...

No summary available.

FN thanks Hubert Pausch for advice on updating this entry.

Redundant - This entry was moved to OMIA 001473-9915 : Dwarfism, growth-hormone deficiency in Bos indicus

Homozygotes for this mutation have a mature weight and size approximately 70% that of normal Brahman cattle. In a comparison of ovarian growth and development between dwarfs and normals, Chase et al. (1998) showed that the dwarfs have abnormally high levels of circulating growth hormone, and abnormally low levels of insulin-like-growth factor I, resulting in failure to maintain follicular growth during the midluteal phase of the estrous cycle....

Jacinto et al. (2025) investigated a Holstein calf with primordial disproportionate dwarfism and craniofacial dysmorphism using a whole genome sequencing approach: "A heterozygous pathogenic missense variant in exon 12 of PDGFRA [Chr6:g.69749162 T > C; c.1685 T > C; p.Ile562Thr; omia.variant:1841], which replaces residue 562, was found and might be due to a spontaneous de novo mutation. However, due to the lack of parental DNA, we could ...

Jacinto et al (2025) investigated two half-sib Angus calves with chondrodysplasia leading to primordial disproportionate dwarfism in a whole genome sequencing approach: "Assuming a dominant MOI [mode of inheritance], a heterozygous pathogenic missense variant was found in exon 6 of PRDM10 leading to an amino acid exchange in PRDM10 at position 289, located in the PR-SET domain (Chr29:g.36138136G > A; c.866C > T; p.Pro289Leu) [omia.varian...

No summary available.

No summary available.

Sartelet et al. (2012) identified the causative mutation as a "c124-­2A>G splice variant in intron 1 of the RNF11 gene". This gene encodes RING finger protein 11, which is a key regulator in the A20 complex of the inflammatory response.

No summary available.

No summary available.