Caudal and thoracic vertebral and viscerocranial malformation, SLC40A1-related
Phenotype Details
- Phene ID
- 6695
- Name
- Caudal and thoracic vertebral and viscerocranial malformation, SLC40A1-related
- Phene Name
- N/A
- OMIA ID
- 3020
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2025
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1839 | Caudal and thoracic vertebral and viscerocranial malformation | 398299063 | 1 | 2 | NC_037329.1:g.6785954T>A | NM_001077970.1:c.323T>A | NP_001071438.1:p.(I108N) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
Molecular Genetics
Jacinto et al. (2025): "A Holstein heifer ... was clinically diagnosed with scoliosis of the caudal vertebra (“crooked tail”), thoracic scoliosis, and skull dysplasia. The [whole genome sequencing based] trio-approach identified a heterozygous missense variant in exon 5 of SLC40A1, affecting the ferroportin-1 domain of SLC40A1 (Chr2:g.6785954 T > A; c.323 T > A; p.Ile108Asn) [omia.variant:1839]. The pathogenic variant most likely arose post-zygotically due to a spontaneous de novo mutation during the development of the embryo, as no variant reads were observed in either parental DNA."