OMIA 002305-9615 : Muscular dystrophy, limb-girdle, type R3 (LGMDR3) in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 608099 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2021

Cross-species summary: Previously known as Muscular dystrophy, limb-girdle, type 2D (LGMD2D): "At the 229th ENMC international workshop, Straub et al. (2018) reviewed, reclassified, and/or renamed forms of LGMD. The proposed naming formula was 'LGMD, inheritance (R or D), order of discovery (number), affected protein.' Under this formula, LGMD2D was renamed LGMDR3." (OMIM 608099)

Molecular basis: Mickleson et al. (2021): "Genetic mapping and whole genome sequencing" in a "cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria" "identified a premature stop codon mutation in the sarcoglycan A subunit gene (SGCA)" as a likely causal variant.

Breed: Miniature dachshund.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) Canis lupus familiaris 9 NC_051813.1 (26959303..26972755) SGCA 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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1280 Miniature dachshund Muscular dystrophy, limb-girdle, type R3 SGCA nonsense (stop-gain) Naturally occurring variant CanFam3.1 9 g.26166312G>A c.G224A p.(W75*) 2021 33407862

Reference


2021 Mickelson, J.R., Minor, K.M., Guo, L.T., Friedenberg, S.G., Cullen, J.N., Ciavarella, A., Hambrook, L.E., Brenner, K.M., Helmond, S.E., Marks, S.L., Shelton, G.D. :
Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D. Skelet Muscle 11:2, 2021. Pubmed reference: 33407862. DOI: 10.1186/s13395-020-00257-y.

Edit History


  • Created by Frank Nicholas on 09 Jan 2021
  • Changed by Frank Nicholas on 09 Jan 2021