OMIA 002119-9615 : Polyneuropathy, GJA9-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611923

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Incompletely Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Species-specific symbol: LPN2

Mapping: Becker et al. (2017): "A genome-wide comparison of 173 k SNP genotypes of 176 cases, excluding dogs homozygous for the ARHGEF10 variant, and 138 controls, was carried out to detect further PN-associated variants. A single suggestive significant association signal on CFA15 was found. "

Molecular basis: Becker et al. (2017) identified a likely causal variant as a "GJA9 variant (CanFam3.1: chr15.3863,524_3863,525delAG) [which] results in a frameshift (ENSCAFT00000038555: c.1107_1108delAG) and premature stop codon (F1PSG8_CANLF: p.Glu370AsnfsTer12) that is predicted to truncate almost half of the intracellular C-terminus of the encoded connexin."

Breed: Leonberger.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GJA9 gap junction protein, alpha 9, 59kDa Canis lupus familiaris 15 NC_006597.3 (3862418..3864296) GJA9 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
Leonberger Polyneuropathy (LPN2) GJA9 deletion, small (<=20) CanFam3.1 15 g.3863524_3863525delAG c.1107_1108delAG p.Glu370AsnfsTer12 2017 28841859

Reference


2017 Becker, D., Minor, K.M., Letko, A., Ekenstedt, K.J., Jagannathan, V., Leeb, T., Shelton, G.D., Mickelson, J.R., Drögemüller, C. :
A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs. BMC Genomics 18:662, 2017. Pubmed reference: 28841859. DOI: 10.1186/s12864-017-4081-z.

Edit History


  • Created by Frank Nicholas on 28 Aug 2017
  • Changed by Frank Nicholas on 01 Sep 2017