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Centronuclear Myopathy (Labrador Retriever Type)

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Test Overview:

Do not breed affected dogs (CNM/CNM) as all offspring would carry at least one mutation. Avoid breeding two carriers (N/CNM x N/CNM) to prevent producing affected puppies. Breed carriers (N/CNM) only to genetically clear dogs (N/N). This results in no affected puppies but some carriers.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

PTPLA

Variant Detected:

chr2:19371988-19371989 (canFam3): 236 bp insertion; chr2:19371976-19371988 (canFam3): 13 bp duplication (dup CACACAAAGGTTT)

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the PTPLA gene will reliably determine if a Labrador retriever is a genetic carrier of centronuclear Myopathy.

Research Citation(s):

Gentilini F, Zambon E, Gandini G, Rosati M, Spadari A, Romagnoli N, Turba ME, Gernone F.Frequency of the allelic variant of the PTPLA gene responsible for centronuclear myopathy in Labrador Retriever dogs as assessed in Italy. J Vet Diagn Invest. 2011 Jan; 23(1):124-6. [PubMed: 21217042]
Maurer M, Mary J, Guillaud L, Fender M, Pele M, Bilzer T, Olby N, Penderis J, Shelton GD, Panthier JJ, Thibaud JL, Barthelemy I, Aubin-Houzelstein G, Blot S, Hitte C, Tiret L. Centronuclear myopathy in Labrador retrievers: A recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. PLoS One. 2012;7(10):e46408. doi:10.1371/journal.pone.0046408. [PubMed: 23071563]
Pelé M, Tiret L, Kessler JL, Blot S, Panthier JJ. SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet. 2005 Jun 1; 14(11):1417-27. [PubMed: 15829503]

Associated Breed(s):

Australian Cobberdog, Australian Labradoodle , Goldendoodle, Labradoodle , Labrador Retriever, Mixed Breed,

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