OMIA 001962-9615 : Neuronal ceroid lipofuscinosis, 7 in Canis lupus familiaris
Faller et al. (2016) demonstrated that the same genetic variant is also present in Chihuahuas with neuronal ceroid lipofuscinosis 7.
Karli et al. (2016) reported that "the MFSD8:c.843delT variant is also present [and causal] in Chihuahuas without official registrations."
Ashwini et al. (2016) also reported the same likely causal mutation in Chihuahuas.Clinical features: "progressive neurological decline that included blindness, anxiety, and cognitive impairment. A diagnosis of neuronal ceroid lipofuscinosis was made based on neurological signs, magnetic resonance imaging of the brain, and fluorescence microscopic and electron microscopic examination of brain sections" (Guo et al., 2015) Similar clinical signs were also observed in Chihuahuas (Faller et al. 2016). Pathology: "Both the cerebellum and the cerebral cortex exhibited massive intracellular accumulations of autofluorescent material with a golden yellow emission under blue light illumination . . . . In the cerebellum storage material was most prominent in the Purkinje cells, but substantial amounts of this material were also present in the granular layer . . . . Perinuclear accumulations of autofluorescent storage granules were observed in neurons throughout the cerebral cortex" (Guo et al., 2015) The pathology of affected Chihuahuas was described by Faller et al. (2016). Breeds: Chihuahua, Chinese Crested Dog. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MFSD8||major facilitator superfamily domain containing 8||Canis lupus familiaris||19||NC_006601.3 (12905336..13030901)||MFSD8||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Chihuahua Chinese Crested Dog||Neuronal ceroid lipofuscinosis, 7||MFSD8||deletion, small (<=20)||c.843delT||p.F282Lfs*13||2015||25551667||Breed and p. information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2017||Katz, M.L., Rustad, E., Robinson, G.O., Whiting, R.E.H., Student, J.T., Coates, J.R., Narfstrom, K. :|
|Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089. DOI: 10.1016/j.nbd.2017.08.017.|
|2016||Ashwini, A., D'Angelo, A., Yamato, O., Giordano, C., Cagnotti, G., Harcourt-Brown, T., Mhlanga-Mutangadura, T., Guo, J., Johnson, G.S., Katz, M.L. :|
|Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. Mol Genet Metab 118:326-32, 2016. Pubmed reference: 27211611. DOI: 10.1016/j.ymgme.2016.05.008.|
|Faller, K.M., Bras, J., Sharpe, S.J., Anderson, G.W., Darwent, L., Kun-Rodrigues, C., Alroy, J., Penderis, J., Mole, S.E., Gutierrez-Quintana, R., Guerreiro, R.J. :|
|The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? J Neurosci Res 94:339-47, 2016. Pubmed reference: 26762174. DOI: 10.1002/jnr.23710.|
|Karli, P., Oevermann, A., Bauer, A., Jagannathan, V., Leeb, T. :|
|MFSD8 single-base pair deletion in a Chihuahua with neuronal ceroid lipofuscinosis. Anim Genet :, 2016. Pubmed reference: 27145727. DOI: 10.1111/age.12449.|
|2015||Guo, J., O'Brien, D.P., Mhlanga-Mutangadura, T., Olby, N.J., Taylor, J.F., Schnabel, R.D., Katz, M.L., Johnson, G.S. :|
|A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis. BMC Vet Res 10:960, 2015. Pubmed reference: 25551667. DOI: 10.1186/s12917-014-0181-z.|
- Created by Frank Nicholas on 02 May 2015
- Changed by Tosso Leeb on 01 Apr 2016
- Changed by Frank Nicholas on 13 May 2016
- Changed by Frank Nicholas on 25 May 2016