OMIA 001676-9615 : Achromatopsia (cone degeneration, hemeralopia), GSPT in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 262300

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2002

Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)

Species-specific symbol: cd^GSPT

Mapping: Sidjanin et al. (2002) conducted a genome scan with microsatellites, and identified one microsatellite on CFA29, namely C29.002, completely linked to the disorder locus, with recombination fraction = 0 at a LOD score of 24.68.

Molecular basis: A causative mutation for this disorder was identified via a comparative positional cloning approach. First, as described in the Mapping section, a genome scan showed that the disorder locus is in a region of chromosome CFA29. The homologous region of the human genome (HSA8q21-22) contains the gene for cyclic nucleotide-gated channel ╬▓-subunit (CNBG3), mutations in which cause a very similar disorder in humans (see the OMIM entry above). Sequencing of this strong comparative positional candidate gene enabled the same authors to report that this disorder in German Short-hair Pointers is due to a "missense mutation in exon 6 (D262N, nucleotide 784) within a conserved region of" the CNGB3 gene, which encodes cyclic nucleotide-gated channel beta-subunit.

Breed: German Shorthair Pointer.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CNGB3 cyclic nucleotide gated channel beta 3 Canis lupus familiaris 29 NC_006611.3 (32992715..32744946) CNGB3 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

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
German Shorthair Pointer Achromatopsia (cone degeneration, hemeralopia), GSPT CNGB3 missense CanFam3.1 19 g.32837065G>A c.784G>A p.D262N 2002 12140185 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2017 Ye, G.J., Komáromy, A.M., Zeiss, C., Calcedo, R., Harman, C.D., Koehl, K.L., Stewart, G.A., Iwabe, S., Chiodo, V.A., Hauswirth, W.W., Aguirre, G.D., Chulay, J.D. :
Safety and Efficacy of AAV5 Vectors Expressing Human or Canine CNGB3 in CNGB3-Mutant Dogs. Hum Gene Ther Clin Dev 28:197-207, 2017. Pubmed reference: 29020838. DOI: 10.1089/humc.2017.125.
2016 Dixon, C.J. :
Achromatopsia in three sibling Labrador Retrievers in the UK. Vet Ophthalmol 19:68-72, 2016. Pubmed reference: 25752464. DOI: 10.1111/vop.12265.
2012 Miyadera, K., Acland, G.M., Aguirre, G.D. :
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.
2002 Sidjanin, D.J., Lowe, J.K., McElwee, J.L., Milne, B.S., Phippen, T.M., Sargan, D.R., Aguirre, G.D., Acland, G.M., Ostrander, E.A. :
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3 Human Molecular Genetics 11:1823-33, 2002. Pubmed reference: 12140185.

Edit History


  • Created by Frank Nicholas on 07 Dec 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 19 Sep 2012