Growth and respiratory lethal syndrome
- Phene ID
- 4974
- Name
- Growth and respiratory lethal syndrome
- Phene Name
- N/A
- OMIA ID
- 2560
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2022
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1474 | Growth and respiratory lethal syndrome | 388172835 | 1 | 3 | g.104701617G>A | c.149G>A | p.(C50Y) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Lidia, Spain (Cattle) | 534 | 9913 | http://purl.obolibrary.org/obo/VBO_0002878 |
Eusebi et al. (2022) conducted a detailed pedigree analysis which suggested an "hypothesis of a variant that severely affects the function of a major gene following a classic Mendelian recessive mode of inheritance".
Eusebi et al. (2022): "Whole genome resequencing of three affected calves and three putative non-carrier parents identified a novel missense variant (c.149G>A|p.Cys50Tyr) in exon 2 of the endothelin 2 (EDN2) gene. Bioinformatic analyses of p.Cys50Tyr effects predicted them to be damaging for both the structure and the function of the edn2 protein, and to create a new site of splicing that may also affect the pattern of pre-mRNA splicing and exon definition. Sanger sequencing of this variant on the rest of the sample set confirmed the segregation pattern obtained with whole genome re-sequencing".