OMIA:002710-9615 : Cardiomyopathy, dilated, ABCC9-related in Canis lupus familiaris (dog)
Categories: Cardiovascular system phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Species-specific name: Sudden cardiac death in the young (SCDY) and dilated cardiomyopathy (DCM)
Species-specific symbol: SCDY/DCM
Mapping: Furrow et al. (2023) "performed a genome-wide association study for SCDY/DCM in Manchester Terrier dogs and identified a susceptibility locus harboring the cardiac ATP-sensitive potassium channel gene ABCC9."
Molecular basis: Furrow et al. (2023): "Sanger sequencing revealed an ABCC9 p.R1186Q variant present in a homozygous state in all SCDY/DCM-affected dogs (n = 26). None of the controls genotyped (n = 398) were homozygous for the variant, but 69 were heterozygous carriers, consistent with autosomal recessive inheritance with complete penetrance (p = 4 × 10−42 for the association of homozygosity for ABCC9 p.R1186Q with SCDY/DCM)."
Clinical features: Furrow et al. (2023): "The Manchester Terrier provides a naturally occurring animal model of SCDY/DCM with disease manifesting as sudden death before 2 years of age, typically by 6 months [Legge et al. 2013]."
Pathology: Furrow et al. (2023): "Necropsy findings support acute and chronic forms. In the acute form, the heart is macroscopically normal with histopathologic abnormalities of acute multifocal myocardial degeneration and necrosis without inflammation. In the chronic form, mild cardiomegaly, left ventricle dilation, left ventricular wall thickening, and left auricle enlargement are common; in addition to myocardial degeneration, histopathologic abnormalities include myocardial fibrosis, mild inflammation, and, less frequently, myocardial mineralization. Dogs appear healthy prior to sudden death, with reports of anesthetic events or exercise preceding death in some cases [Legge et al. 2013]."
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|
|ABCC9||ATP-binding cassette, sub-family C (CFTR/MRP), member 9||Canis lupus familiaris||27||NC_051831.1 (25419340..25572249)||ABCC9||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|
|1574||Manchester Terrier||Cardiomyopathy, dilated, ABCC9-related||ABCC9||SCDY/DCM||missense||Naturally occurring variant||Dog10K_Boxer_Tasha||27||g.21042635C>T||c.3557G>A||p.(R1186Q)||XM_022410972.2; XP_022266680.2||2023||37239348|
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||Furrow, E., Tate, N., Minor, K., Martinson, S., Larrabee, S., Anttila, M., Sleeper, M., Henthorn, P. :|
|An ABCC9 missense variant is associated with sudden cardiac death and dilated cardiomyopathy in juvenile dogs. Genes (Basel) 14:, 2023. Pubmed reference: 37239348 . DOI: 10.3390/genes14050988.|
|2013||Legge, C.H., López, A., Hanna, P., Côté, E., Hare, E., Martinson, S.A. :|
|Histological characterization of dilated cardiomyopathy in the juvenile toy Manchester terrier. Vet Pathol 50:1043-52, 2013. Pubmed reference: 23456967 . DOI: 10.1177/0300985813480509.|
- Created by Imke Tammen2 on 29 May 2023