Waardenburg syndrome, type 2A
Phenotype Details
- Phene ID
- 5281
- Name
- Waardenburg syndrome, type 2A
- Phene Name
- white coat colour
- OMIA ID
- 1401
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2023
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| MITF | 407219 | 22 | microphthalmia-associated transcription factor |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1547 | White coat colour | 407219 | Unknown | 22 | g.31628133_31628135del | c.668_670del | p.(R224del) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Angus (Cattle) | 44 | 9913 | http://purl.obolibrary.org/obo/VBO_0000104 |
Summary
see also OMIA:000214-9913 Coat colour, white spotting; OMIA:001680-9913 Coat colour, dominant white with bilateral deafness; and OMIA:001931-9913 Depigmentation associated with microphthalmia for other phenes due to MITF variants in cattle.
Molecular Genetics
Petersen et al. (2023): "whole-genome sequencing was conducted on the trio of individuals. A [de-novo] 3-bp in-frame deletion in MITF was identified; this mutation was unique to the calf but identical to the delR217 variant reported in both humans and murine models of Waardenburg syndrome type 2A and Tietz syndrome."