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OMIA:002332-9615 : Long QT syndrome, KCNQ1-related in Canis lupus familiaris (dog)

In other species: rabbit

Categories: Cardiovascular system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 192500 (trait) , 607542 (gene)

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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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."

Breed: English Springer Spaniel (Dog) (VBO_0200497).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

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

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.

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 (Dog) 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
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002332-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

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.

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  • Created by Imke Tammen2 on 13 Aug 2023
  • Changed by Imke Tammen2 on 13 Aug 2023