Dwarfism, ANKRD28-related

Phene ID

5069

Name

Dwarfism, ANKRD28-related

Phene Name

N/A

OMIA ID

2596

Species ID

9913

Characterised

Yes

Characterised Year

N/A

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."