Epidermolysis bullosa, junctional, ITGA6-related
Phenotype Details
- Phene ID
- 5418
- Name
- Epidermolysis bullosa, junctional, ITGA6-related
- Phene Name
- N/A
- OMIA ID
- 2718
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2023
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1577 | Epidermolysis bullosa, junctional, ITGA6-related | 388274477 | 1 | 2 | NC_037329.1:g.24112740C>A | NM_001109981.1:c.2160+1G>T | NP_001103451.1:p.(I657Mfs) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Charolais (Cattle) | 19 | 9913 | http://purl.obolibrary.org/obo/VBO_0000177 |
Molecular Genetics
Boussaha et al. (2023): "Homozygosity mapping followed by analysis of the whole-genome sequences of two [affected Charolais] cases and 5031 control individuals enabled us to prioritize a splice donor site of ITGA6 (c.2160 + 1G > T; Chr2 g.24112740C > A) as the most compelling candidate variant. ... RT-PCR analyses revealed increased retention of introns 14 and 15 of the ITGA6 gene in a heterozygous mutant cow compared with a matched control. The mutant mRNA is predicted to cause a frameshift (ITGA6 p.I657Mfs1) that affects the assembly of the integrin α6β4 dimer and its correct anchoring to the cell membrane."