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Congenital Hypothyroidism (Feline)

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Test Overview:

Genetic testing of breeding cats is strongly advised to identify carriers and affected cats. Avoid breeding two carriers to prevent affected kittens. Breeding carrier to clear (non-carrier) cats is acceptable; offspring will be carriers or clear but unaffected. Gradual reduction of mutation frequency through selective breeding is recommended while maintaining genetic diversity.

Category:

Endocrine - Associated with hormone-producing organs

Gene:

TPO

Variant Detected:

c.430G>A (p.Gly144Arg)

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 Recessive

Recommended Screening:

Genetic testing can determine if a cat is a carrier of Congenital Hypothyroidism.

Research Citation(s):

Van Poucke M, Van Renterghem E, Peterson ME, van den Berg MF, Stock E, Peelman LJ, Daminet S. Association of recessive c.430G>A (p.(Gly144Arg)) thyroid peroxidase variant with primary congenital hypothyroidism in cats. J Vet Intern Med. 2022 Sep;36(5):1597-1606. doi: 10.1111/jvim.16524. Epub 2022 Aug 26. PMID: 36054182; PMCID: PMC9511070.

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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