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