OMIA 001984-9615 : Golden Retriever PRA 2 in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
613464
,
615985
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2014
Molecular basis:
Downs et al. (2014) reported that "a single nucleotide deletion was identified in exon 8 of the TTC8 gene of affected Golden Retrievers. The frame shift mutation was predicted to cause a premature termination codon. In a larger cohort, this mutation, TTC8c.669delA, segregates correctly in 22 out of 29 cases tested (75.9%)."
Breed:
Golden Retriever.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TTC8 | tetratricopeptide repeat domain 8 | Canis lupus familiaris | 8 | NC_006590.3 (60061670..60115464) | TTC8 | Homologene, Ensembl, NCBI gene |
Variants
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Golden Retriever | Golden Retriever PRA 2 | TTC8 | deletion, small (<=20) | CanFam 2 | 8 | g.63129154delA | c.669delA | p.Lys223Argfs*15 | 2014 | 26401321 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2016 | Downs, L.M., Aguirre, G.D. : | |
| FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. Adv Exp Med Biol 854:201-7, 2016. Pubmed reference: 26427412. DOI: 10.1007/978-3-319-17121-0_27. | ||
| 2014 | Downs, L.M., Wallin-Håkansson, B., Bergström, T., Mellersh, C.S. : | |
| A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genet Epidemiol 1:4, 2014. Pubmed reference: 26401321. DOI: 10.1186/2052-6687-1-4. |
Edit History
- Created by Frank Nicholas on 04 Feb 2016
- Changed by Frank Nicholas on 04 Feb 2016