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Griscelli Syndrome Type 1

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Test Overview:

Genetic testing for the MYO5A mutation is recommended to identify carriers and affected dogs, particularly in breeds like Miniature Dachshund and related types displaying similar phenotypes. Avoid breeding two carriers to prevent producing affected puppies. Breeding carriers with normal dogs is acceptable but offspring must be tested before use in breeding. Sharing genetic information among breeders supports responsible breeding programs and reduces disease incidence.

Category:

Trait (Associated with Phenotype)

Gene:

MYO5A

Variant Detected:

c.4973_4974insA

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the MYO5A gene will reliably determine if a dog is a genetic carrier of Griscelli Syndrome Type 1.

Research Citation(s):

Christen, M., de le Roi, M., Jagannathan, V., Becker, K., Leeb, T. : MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1. Genes (Basel) 12:1479, 2021. Pubmed reference: 34680875.

Associated Breed(s):

Mixed Breed,
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