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Duchenne Muscular Dystrophy (Pembroke Welsh Corgi Type)

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Test Overview:

Testing breeding stock, especially females, for the LINE-1 insertion mutation in the DMD gene is recommended. Avoid breeding carrier females to prevent producing affected male offspring. Males with the mutation should not be bred. Breeding decisions should prioritise maintaining genetic diversity while eliminating the mutation from the population.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

DMD

Variant Detected:

chrX:27721607-27721608 (canFam3): Approx. 480 bp insertion 1048 bp into intron 13 of the dystrophin gene

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal X-Linked

Recommended Screening:

Immunofluorescence microscopy on the vastus lateralis (VL) and CT muscles

Research Citation(s):

Smith BF, Yue Y, Woods PR, Kornegay JN, Shin JH, Williams RR, Duan D. An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed. Lab Invest. 2011 Feb;91(2):216-31. [PubMed: 20714321]

Associated Breed(s):

Pembroke Welsh Corgi,

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