Rhizomelic chondrodysplasia punctata, GNPAT-related
Phenotype Details
- Phene ID
- 6404
- Name
- Rhizomelic chondrodysplasia punctata, GNPAT-related
- Phene Name
- N/A
- OMIA ID
- 2958
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2024
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1804 | Rhizomelic chondrodysplasia punctata | 398299014 | 1 | 28 | NC_037355.1:g.4039268G>A | r.spl | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Aubrac (Cattle) | 1501 | 9913 | http://purl.obolibrary.org/obo/VBO_0000112 |
Inheritance
Boulling et al. (2024) report "a lethal form of recessive chondrodysplasia observed in 21 stillborn calves of the Aubrac breed of beef cattle."
Molecular Genetics
Boulling et al. (2024) "Using homozygosity mapping, whole genome sequencing of two affected individuals, and filtering for variants found in 1,867 control genomes, [the authors] reduced the list of candidate variants to a single deep intronic substitution in GNPAT (g.4,039,268G>A on Chromosome 28 of the ARS-UCD1.2 bovine genome assembly [omia.variant:1804])." The variant segregated with the disease in 21 affected animals and 26 available parents and in vivo and in vitro analysis identified that the variant "activates cryptic splice sites within intron 11 resulting in abnormal transcripts."