Neuronal ceroid lipofuscinosis, 5
Phenotype Details
- Phene ID
- 2982
- Name
- Neuronal ceroid lipofuscinosis, 5
- Phene Name
- N/A
- OMIA ID
- 1482
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2006
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 593 | Neuronal ceroid lipofuscinosis, 5 | 38911179 | 1 | 12 | g.52112732_52112733insG | c.662_663insG | p.(R221Gfs*6) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Devon (Cattle) | 185 | 9913 | http://purl.obolibrary.org/obo/VBO_0000192 |
Molecular Genetics
Using the comparative positional candidate gene approach (based on similarities of the bovine clinical signs with the homologous human disorder, and the mapping results mentioned above), Houweling et al. (2006; Biochim Biophys Acta 1762:890-7) sequenced CLN5 genomic DNA and cDNA from affected and normal Devon cattle, identifying the causal mutation as a "single base duplication in exon 4 of bovine CLN5 (c.662dupG) . . . . This duplication results in a frameshift, predicted to introduce a premature termination codon six amino acids downstream of the duplication site resulting in the loss of 132 C-terminal amino acids".