Persistent truncus arteriosus, GATA6-related
- Phene ID
- 4970
- Name
- Persistent truncus arteriosus, GATA6-related
- Phene Name
- N/A
- OMIA ID
- 2559
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2022
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1501 | Persistent truncus arteriosus | 388314538 | Unknown | 24 | g.34187181T>A | c.1249A>T | p.(K417X) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
Besnard et al. (2023) monitored “sire-family calf mortality within the French and Walloon Holstein populations, and ... [used] this information to detect genetic defects that might have been overlooked by lack of specific symptoms. … After outlining the 5 worst bulls per category, [the authors] ... paid particular attention to the bulls Mo and Pa, because they were half-brothers. Using a battery of approaches, including necropsies, karyotyping, genetic mapping, and whole-genome sequencing, [the authors] ... described 2 new independent genetic defects in their progeny and their molecular etiology. … Pa was found to be mosaic for a dominant de novo nonsense mutation of GATA 6 binding protein (GATA6), causing severe cardiac malformations.”
Whole genome sequencing of an affected animal and comparison to control animals identified "a thymine-to-adenine substitution in exon 2 of GATA6 predicted to introduce a premature stop codon (chr24: g.34,187,181T > A; GATA6 p.K417X)" as likely causal variant (Besnard et al., 2023). The variant was validated in additional animals and "2 orthologous human truncating mutations located closest to the present bovine nonsense variant (pS418fs and pG441X) have been reported to cause exactly the same phenotype" (Besnard et al.; 2023).