OMIA:002332-9615 : Long QT syndrome, KCNQ1-related in Canis lupus familiaris (dog)
In other species: rabbit
Categories: Cardiovascular system phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2015
Inheritance: The condition is reported in a single family and the authors suspected that the identified KCNQ1 variant arose de novo in the dam of the affected litter. Animals which were heterozygous for the variant presented with clinical signs (Ware et al. 2015).
Molecular basis: Ware et al. (2015): "DNA sequencing of the KCNQ1 [functional candidate] gene identified a heterozygous single base pair mutation, unique to these 3 [affected English Springer Spaniel] dogs, which changes a conserved amino acid from threonine to lysine and is predicted to change protein structure."
Clinical features: Ware et al. (2015): "A 5-year-old, healthy English Springer Spaniel died suddenly 4 months after delivering a litter of 7 puppies. Within 4 months of the dam's death, 3 offspring also died suddenly. ... Three of 4 littermates examined ... had prolonged QT intervals with unique T-wave morphology."
English Springer Spaniel.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KCNQ1||potassium channel, voltage gated KQT-like subfamily Q, member 1||Canis lupus familiaris||18||NC_051822.1 (47186461..47510762)||KCNQ1||Homologene, Ensembl , NCBI gene|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1596||English Springer Spaniel||Long QT syndrome||KCNQ1||missense||Naturally occurring variant||CanFam3.1||18||g.46604412C>A||c.770C>A||p.(T257K)||XM_022405121.1; XP_022260829.1; published as "Genbank KF439050, KCNQ1_T377K" - coordinates in this table are updated to a recent reference genome.||2015||25779927|
Cite this entry
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.
|2023||Rivas, V.N., Stern, J.A., Ueda, Y. :|
|The role of personalized medicine in companion animal cardiology. Vet Clin North Am Small Anim Pract :, 2023. Pubmed reference: 37423841 . DOI: 10.1016/j.cvsm.2023.05.016.|
|2015||Ware, W.A., Reina-Doreste, Y., Stern, J.A., Meurs, K.M. :|
|Sudden death associated with QT interval prolongation and KCNQ1 gene mutation in a family of English Springer Spaniels. J Vet Intern Med 29:561-8, 2015. Pubmed reference: 25779927 . DOI: 10.1111/jvim.12550.|
- Created by Imke Tammen2 on 13 Aug 2023
- Changed by Imke Tammen2 on 13 Aug 2023