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Glomerulopathy (PLN) NPHS1

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Test Overview:

Genetic testing for NPHS1 and linked KIRREL2 mutations is advised, especially in predisposed breeds like Soft Coated Wheaten Terriers, Airedale Terriers, and Danish-Swedish Farmdogs. Carriers and affected dogs should be identified to avoid breeding affected puppies. Avoid breeding two carriers together due to the increased risk of affected litters. Responsible breeding aims to reduce mutation frequency while maintaining breed diversity. Early veterinary screening and genetic counselling should accompany breeding decisions.

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Gene:

NPHS1

Variant Detected:

N1:c.3067G>A

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:

Complex - Mode Unknown

Recommended Screening:

Genetic testing of the NPHS1 gene will reliably determine if a dog is a genetic carrier of Glomerulopathy (PLN) HPHS1.

Research Citation(s):

Mamm Genome (2013) 24(3-4):119–126

Associated Breed(s):

Airedale Terrier, Soft Coated Wheaten Terrier,

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