OMIA 002274-9615 : Muscular dystrophy, COL6A3-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 254090

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Breed: Labrador Retriever.

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.

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
Labrador Retriever Muscular dystrophy, COL6A3-related COL6A3 splicing CanFam3.1 25 g.48007994C>T c.6210+1G>A CanFam3.1 chr25:48,007,994C > T; NM_001103215.1 c.6210 + 1G > A (Bolduc et al., 2020) 2020 32439203
Labrador Retriever Muscular dystrophy, COL6A3-related COL6A3 nonsense (stop-gain) CanFam3.1 25 g.48014962G>A c.4726C>T p.(R1576*) CanFam3.1 chr25:48,014,962G > A; NM_001103215.1 c.4726C > T, p.R1576* (Bolduc et al., 2020) 2020 32439203

Reference


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 :, 2020. Pubmed reference: 32439203. DOI: 10.1016/j.nmd.2020.03.005.

Edit History


  • Created by Frank Nicholas on 02 Jun 2020