OMIA:002274-9615 : Muscular dystrophy, Ullrich type, COL6A3-related in Canis lupus familiaris (dog) |
Categories: Muscle phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 254090 (trait) , 120250 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2020
Species-specific name: Ullrich-like congenital muscular dystrophy; sarcolemmal specific collagen VI deficient myopathy
Species-specific description: see also 'Muscular dystrophy, Ullrich type, COL6A1-related in Canis lupus familiaris' for similar disease in Landseer dogs
Molecular basis: Bolduc et al. (2020) "describe two different COL6A3 pathogenic variants in Labrador Retriever dogs that result in autosomal recessive or autosomal dominant congenital myopathies ... ." Jankelunas et al. (2023) report 2 American Staffordshire Terrier littermates with Ullrich-like recessively inherited form of congenital muscular dystrophy. Whole-genome sequencing "identified a homozygous 1 bp deletion in the COL6A3 gene" as likely causal variant.
Breeds:
American Staffordshire Terrier (Dog) (VBO_0200055),
Labrador Retriever (Dog) (VBO_0200800).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| COL6A3 | collagen, type VI, alpha 3 | Canis lupus familiaris | 25 | NC_051829.1 (48438226..48356794) | COL6A3 | 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.
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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1625 | American Staffordshire Terrier (Dog) | Muscular dystrophy, COL6A3-related | COL6A3 | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 25 | g.48005972del | c.6398del | p.(P2133Rfs*109) | NM_001103215.1; NP_001096685.1; published as g.48287602CG>C in CanFam4 | 2023 | 37706358 | |||
| 1208 | Labrador Retriever (Dog) | Muscular dystrophy, COL6A3-related | COL6A3 | splicing | Naturally occurring variant | CanFam3.1 | 25 | g.48007994C>T | c.6210+1G>A | NM_001103215.1; CanFam3.1 chr25:48,007,994C > T; NM_001103215.1 c.6210 + 1G > A (Bolduc et al., 2020) | 2020 | 32439203 | ||||
| 1207 | Labrador Retriever (Dog) | Muscular dystrophy, COL6A3-related | COL6A3 | nonsense (stop-gain) | Naturally occurring variant | CanFam3.1 | 25 | g.48014962G>A | c.4726C>T | p.(R1576*) | NM_001103215.1; NP_001096685.1; CanFam3.1 chr25:48,014,962G > A; NM_001103215.1 c.4726C > T, p.R1576* (Bolduc et al., 2020) | 2020 | 32439203 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002274-9615: 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 | Jankelunas, L., Murthy, V.D., Chen, A.V., Minor, K.M., Friedenberg, S.G., Cullen, J.N., Guo, L.T., Mickelson, J.R., Shelton, G.D. : |
| Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy. J Vet Intern Med 37:2504-2509, 2023. Pubmed reference: 37706358. DOI: 10.1111/jvim.16862. | |
| 2020 | Bolduc, V., Minor, K.M., Hu, Y., Kaur, R., Friedenberg, S.G., Van Buren, S., Guo, L.T., Glennon, J.C., Marioni-Henry, K., Mickelson, J.R., Bönnemann, C.G., Shelton, G.D. : |
| Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs. Neuromuscul Disord 30:360-7, 2020. Pubmed reference: 32439203. DOI: 10.1016/j.nmd.2020.03.005. | |
| 2013 | Marioni-Henry, K., Haworth, P., Scott, H., Witte, P., Guo, L.T., Shelton, G.D. : |
| Sarcolemmal specific collagen VI deficient myopathy in a Labrador Retriever. J Vet Intern Med 28:243-9, 2013. Pubmed reference: 24147807. DOI: 10.1111/jvim.12224. |
Edit History
- Created by Frank Nicholas on 02 Jun 2020
- Changed by Imke Tammen2 on 18 May 2022
- Changed by Imke Tammen2 on 31 May 2023
- Changed by Imke Tammen2 on 17 Sep 2023