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OMIA 001977-9615 : Progressive retinal atrophy, CNGA1-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613756 (trait) , 123825 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Mapping: As reported by Wiik et al. (2015), "Using genome-wide association with 15 Shetland Sheepdog (Sheltie) cases and 14 controls, we identified a novel PRA locus on CFA13 (Praw = 8.55 × 10(-7) , Pgenome = 1.7 × 10(-4) ). CNGA1, which is known to be involved in human cases of retinitis pigmentosa, was located within the associated region and was considered a likely candidate gene."

Molecular basis: As reported by Wiik et al. (2015), "Sequencing of [the above candidate] gene identified a 4-bp deletion in exon 9 (c.1752_1755delAACT), leading to a frameshift and a premature stop codon". Pedigree analysis indicated that this is a likely causal mutation in some, but not all, Sheltie families.

Breed: Shetland Sheepdog.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CNGA1 cyclic nucleotide gated channel alpha 1 Canis lupus familiaris 13 NC_051817.1 (44464133..44430864) CNGA1 Homologene, Ensembl, NCBI gene

Variants

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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
Shetland Sheepdog Progressive retinal atrophy, due to CNGA1 mutations CNGA1 deletion, small (<=20) 13 c.1752_1755delAACT 2015 26202106
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Reference


2015 Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. :
Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21, 2015. Pubmed reference: 26202106. DOI: 10.1111/age.12323.

Edit History


  • Created by Frank Nicholas on 31 Dec 2015
  • Changed by Frank Nicholas on 31 Dec 2015