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Niemann-Pick Disease - Sphingomyelinosis

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Test Overview:

Genetic testing for the SMPD1 gene mutation is essential for breeding cats, particularly in affected or at-risk populations. Cats with two copies of the mutation (affected) must not be bred due to severe disease and poor prognosis. Cats with one copy (carriers) do not show symptoms but can pass the mutation to offspring. Carriers should be bred only to cats clear of the mutation to prevent affected kittens. Avoid breeding two carriers together to prevent producing affected kittens. Sharing of genetic testing results among breeders promotes responsible breeding and helps reduce mutation prevalence.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

SMPD1

Variant Detected:

Base Substitution G>C

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 of all breeding animals prior to entering into a breeding program (e.g. at 16 weeks of age).

Research Citation(s):

J Vet Intern Med. 1994 Mar-Apr;8(2):117-21
Mol Genet Metab. June 2003;79(2):99-103

Associated Breed(s):

Persian , Siamese,
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