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Globoid Cell Leukodystrophy (Irish Setter Type)

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Test Overview:

Genetic testing for the GALC mutation is recommended for all potential Irish Setter breeding dogs to identify carriers and affected animals. Dogs with two copies of the mutation (affected) should not be bred to prevent the disease. Carriers should be bred only to dogs tested clear of the mutation to avoid producing affected puppies while maintaining genetic diversity in the breed. Avoid mating two carriers to eliminate risk of affected litters. Sharing genetic test results openly promotes responsible breeding and reduces disease incidence.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

GALC

Variant Detected:

78 base pair insertion mutation (c.790_791insN)

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the GALC gene will reliably determine if a dog is a genetic carrier of globoid cell leukodystrophy (Irish setter type).

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/16490723/ Department of Pathology, College of Veterinary Medicine, University of Georgia, Athens, GA [internet]. AFIP Wednesday Slide Conference - No. 2 ; Case IV - 98A-2995 (AFIP 2641931) 9 September 1998 [cited 23 Dec 2013] Available at http://www.askjpc.org/wsco/wsc/wsc98/98wsc02.htm. McGraw RA, Carmichael KP. Molecular basis of globoid cell leukodystrophy in Irish setters. Vet J. 2006 Mar; 171(2):370-2. [PubMed: 16490723]

Associated Breed(s):

Irish Red and White Setter, Irish Setter,

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