Chondrodysplasia, FGFR3-related
Phenotype Details
- Phene ID
- 4321
- Name
- Chondrodysplasia, FGFR3-related
- Phene Name
- N/A
- OMIA ID
- 1703
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2020
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| FGFR3 | 281769 | 6 | fibroblast growth factor receptor 3 |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1179 | Chondrodysplasia, disproportionate | 281769 | 1 | 6 | NC_037333.1:g.116767863C>A | NM_174318.3:c.2408G>T | NP_776743.1:p.(*803Lext*93) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein (black and white) (Cattle) | 39 | 9913 | http://purl.obolibrary.org/obo/VBO_0000237 |
Inheritance
Häfliger et al. (2020): "Considering that approximately 25% of offspring were affected, we assume that the sire is a germline mosaic for the variant but unfortunately no semen was available to confirm."
Molecular Genetics
Whole-genome sequencing of an affected calf and both its parents, followed by filtering of variants, enabled Häfliger et al. (2020) to identify a stop-lost mutation in FGFR3 as the likely causal variant, namely g.116,767,863C>A; NM_174318.3: c.2408G>T; [XM_024992994.1: p.(Ter803Leuext*93), which is "predicted to extend the sequence at the C‐terminal end with 93 additional amino acids". This variant resulted from a de novo mutation in the germline of the sire.