Neuronal Ceroid Lipofuscinosis MFSD8 (Chinese Crested Type) Overview
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: Scale 5 is the most extreme in severity. It comprises rapidly fatal diseases that may also cause a significant decrease in the quality of life.
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): Chinese Crested, Mixed Breed, Chihuahua,