OMIA:002122-9615 : Muscular dystrophy, limb-girdle, type R6 (LGMDR6) in Canis lupus familiaris
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601287 (trait) , 601411 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2017
Cross-species summary: Previously known as Muscular dystrophy, limb-girdle, type 2F (LGMD2F): "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, LGMD2F was renamed LGMDR6." (OMIM 601287)
History: As summarised by Cox et al. (2017), "The first report of LGMD associated with sarcoglycan deficiency in dogs [by Schatzberg and Shelton, 2004] involved three breeds: Chihuahua, Cocker spaniel, and a 7-month-old male Boston terrier from Colorado (case 1), but mutations were not identified. Four years later, sarcoglycanopathy was described again [by Dietz et al., 2008] in an unrelated 4-month-old male Boston terrier from Iowa."
Molecular basis: Cox et al. (2017) reported different likely causal variants in two unrelated Boston Terriers (case 1 above, and an unrelated dog not previously described), the first being a small deletion c.534_535delGA and the second an indel "([Can Fam3.1]chr4:53262018-53262020, ATG > CC), followed by 9 bp that were unchanged before a deletion of 19,403 bp (chr4:53262030-53281432)"
Clinical features: Cox et al. (2017): "marked muscle weakness and atrophy in the shoulder and hips during puppyhood"
Breed: Boston Terrier.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SGCD||sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)||Canis lupus familiaris||4||NC_051808.1 (54612269..53696389)||SGCD||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|
|802||Boston Terrier||Muscular dystrophy, limb-girdle, type 2F||SGCD||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||4||g.53353932_53353933del||c.534_535del||p.(E178Dfs*3)||XM_005619257.3; XP_005619314.1, published as c.534_535delGA||2017||28702169||Genomic coordinates in CanFam3.1 provided by Robert Kuhn|
|928||Boston Terrier||Muscular dystrophy, limb-girdle, type 2F||SGCD||delins, gross (>20)||Naturally occurring variant||CanFam3.1||4||g.[53262018_53262020delinsCC;53262030_53281432del]||g.[53262018_53262020delinsCC;53262030_53281432del]||2017||28702169|
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.
|2017||Cox, M.L., Evans, J.M., Davis, A.G., Guo, L.T., Levy, J.R., Starr-Moss, A.N., Salmela, E., Hytönen, M.K., Lohi, H., Campbell, K.P., Clark, L.A., Shelton, G.D. :|
|Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. Skelet Muscle 7:15, 2017. Pubmed reference: 28702169 . DOI: 10.1186/s13395-017-0131-0.|
|2008||Deitz, K., Morrison, J.A., Kline, K., Guo, L.T., Shelton, G.D. :|
|Sarcoglycan-deficient muscular dystrophy in a Boston Terrier. J Vet Intern Med 22:476-80, 2008. Pubmed reference: 18371037 . DOI: 10.1111/j.1939-1676.2008.0080.x.|
|2004||Schatzberg, SJ., Shelton, GD. :|
|Newly identified neuromuscular disorders. Vet Clin North Am Small Anim Pract 34:1497-524, 2004. Pubmed reference: 15474686 . DOI: 10.1016/j.cvsm.2004.06.001.|
- Created by Frank Nicholas on 01 Sep 2017
- Changed by Frank Nicholas on 01 Sep 2017
- Changed by Frank Nicholas on 09 Jan 2021