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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.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
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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.

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.

Edit History


  • Created by Frank Nicholas on 01 Sep 2017
  • Changed by Frank Nicholas on 01 Sep 2017
  • Changed by Frank Nicholas on 09 Jan 2021