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Neuronal Ceroid Lipofuscinosis MFSD8 (Chinese Crested Type)

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Category:

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

Gene:

Major facilitator superfamily domain containing 8 (MFSD8) on Chromosome 19

Variant Detected:

Nucleotide Deletion c.843delT p.Phe282Leufs13STOP

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

Research Citation(s):

Guo, J. et al. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis (2015) BMC Vet Res, 10;960.

Associated Breed(s):

Chihuahua, Chinese Crested, Mixed Breed,

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