OMIA 000725-9685 : Niemann-Pick disease, type C1 in Felis catus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 257220

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2003

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Somers et al. (2003) showed that this disorder is due to a 2864G>C base substitution in the NPC1 gene, resulting in a C955S amino-acid substitution.

In an excellent example of Precision Medicine (and the first time this term has appeared in the 24,392 papers currently [29 Oct 2016] included in OMIA), Mauler et al. (2017) identified a novel likely causal (missense) variant (c.1322A>C; p.H441P) in the NPC1 gene by 25x whole-genome sequencing an affected cat and comparing its variants to those in the 99 Lives Cat Genome Sequencing database.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NPC1 Niemann-Pick disease, type C1 Felis catus D3 NC_018734.3 (48284088..48227505) NPC1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Niemann-Pick disease, type C1 NPC1 missense Felis_catus_6.2 D3 g.47439721G>C c. 2864G>C p.C955S 2003 12809639 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
Domestic shorthair Niemann-Pick disease, type C1 NPC1 missense Felis_catus_6.2 D3 g.47455793A>C c.1322A>C p.H441P 2017 28233346 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


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 Mauler, D.A., Gandolfi, B., Reinero, C.R., O'Brien, D.P., Spooner, J.L., Lyons, L.A. :
Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing. J Vet Intern Med 31:539-544, 2017. Pubmed reference: 28233346. DOI: 10.1111/jvim.14599.
2016 Bradbury, A., Bagel, J., Sampson, M., Farhat, N., Ding, W., Swain, G., Prociuk, M., O'Donnell, P., Drobatz, K., Gurda, B., Wassif, C., Remaley, A., Porter, F., Vite, C. :
Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease. J Pharmacol Exp Ther 358:254-61, 2016. Pubmed reference: 27307499. DOI: 10.1124/jpet.116.232975.
2015 Vite, C.H., Bagel, J.H., Swain, G.P., Prociuk, M., Sikora, T.U., Stein, V.M., O'Donnell, P., Ruane, T., Ward, S., Crooks, A., Li, S., Mauldin, E., Stellar, S., De Meulder, M., Kao, M.L., Ory, D.S., Davidson, C., Vanier, M.T., Walkley, S.U. :
Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease. Sci Transl Med 7:276ra26, 2015. Pubmed reference: 25717099. DOI: 10.1126/scitranslmed.3010101.
2013 Bagel, J.H., Sikora, T.U., Prociuk, M., Pesayco, J.P., Mizisin, A.P., Shelton, G.D., Vite, C.H. :
Electrodiagnostic testing and histopathologic changes confirm peripheral nervous system myelin abnormalities in the feline model of niemann-pick disease type C. J Neuropathol Exp Neurol 72:256-62, 2013. Pubmed reference: 23399903. DOI: 10.1097/NEN.0b013e318286587f.
Roszell, B.R., Tao, J.Q., Yu, K.J., Gao, L., Huang, S., Ning, Y., Feinstein, S.I., Vite, C.H., Bates, S.R. :
Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease. PLoS One 8:e67084, 2013. Pubmed reference: 23843985. DOI: 10.1371/journal.pone.0067084.
2012 Stein, V.M., Crooks, A., Ding, W., Prociuk, M., O'Donnell, P., Bryan, C., Sikora, T., Dingemanse, J., Vanier, M.T., Walkley, S.U., Vite, C.H. :
Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C. J Neuropathol Exp Neurol 71:434-48, 2012. Pubmed reference: 22487861. DOI: 10.1097/NEN.0b013e31825414a6.
2010 Ward, S., O'Donnell, P., Fernandez, S., Vite, C.H. :
2-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C disease. Pediatr Res 68:52-6, 2010. Pubmed reference: 20357695. DOI: 10.1203/PDR.0b013e3181df4623.
2008 Vite, CH., Ding, W., Bryan, C., O'Donnell, P., Cullen, K., Aleman, D., Haskins, ME., Van Winkle, T. :
Clinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick type C disease. Pediatr Res 64:544-9, 2008. Pubmed reference: 18614965. DOI: 10.1203/PDR.0b013e318184d2ce.
2003 Somers, KL., Royals, MA., Carstea, ED., Rafi, MA., Wenger, DA., Thrall, MA. :
Mutation analysis of feline Niemann-Pick C1 disease. Mol Genet Metab 79:99-103, 2003. Pubmed reference: 12809639.
2002 Garver, W.S., Somers, K., Krishnan, K., Mitchell, T., Heidenreich, R.A., Thrall, M.A. :
The Niemann-Pick C1 protein in feline fibroblasts. Mol Genet Metab 76:31-6, 2002. Pubmed reference: 12175778.
2001 Somers, K.L., Brown, D.E., Fulton, R., Schultheiss, P.C., Hamar, D., Smith, M.O., Allison, R., Connally, H.E., Just, C., Mitchell, T.W., Wenger, D.A., Thrall, M.A. :
Effects of dietary cholesterol restriction in a feline model of Niemann-Pick type C disease Journal of Inherited Metabolic Disease 24:427-436, 2001. Pubmed reference: 11596647.
1999 Somers, K.L., Wenger, D.A., Royals, M.A., Carstea, E.D., Connally, H.E., Kelly, T., Kimball, R., Thrall, M.A. :
Complementation studies in human and feline Niemann-Pick type C disease. Mol Genet Metab 66:117-21, 1999. Pubmed reference: 10068514. DOI: 10.1006/mgme.1998.2778.
1997 March, P.A., Thrall, M.A., Brown, D.E., Mitchell, T.W., Lowenthal, A.C., Walkley, S.U. :
Gabaergic neuroaxonal dystrophy and other cytopathological alterations in feline niemann-pick disease type c Acta Neuropathologica 94:164-172, 1997. Pubmed reference: 9255392.
1996 Brown, D.E., Thrall, M.A., Walkley, S.U., Wurzelmann, S., Wenger, D.A., Allison, R.W., Just, C.A. :
Metabolic abnormalities in feline Niemann-Pick type C heterozygotes Journal of Inherited Metabolic Disease 19:319-330, 1996. Pubmed reference: 8803775.
1994 Brown, D.E., Thrall, M.A., Walkley, S.U., Wenger, D.A., Mitchell, T.W., Smith, M.O., Royals, K.L., March, P.A., Allison, R.W. :
Feline Niemann-Pick disease type C American Journal of Pathology 144:1412-1415, 1994. Pubmed reference: 8203477.
Munana, K.R., Luttgen, P.J., Thrall, M.A., Mitchell, T.W., Wenger, D.A. :
Neurological Manifestations of Niemann-Pick Disease Type-C in Cats Journal of Veterinary Internal Medicine 8:117-121, 1994. Pubmed reference: 8046674.
1990 Lowenthal, A.C., Cummings, J.F., Wenger, D.A., Thrall, M.A., Wood, P.A., Delahunta, A. :
Feline Sphingolipidosis Resembling Niemann-Pick Disease Type-C Acta Neuropathologica 81:189-197, 1990. Pubmed reference: 2127982.
1989 Cuddon, P.A., Higgins, R.J., Duncan, I.D., Miller, S.P.F., Parent, J.M., Moser, A.B. :
Polyneuropathy in Feline Niemann-Pick Disease Brain 112:1429-1443, 1989. Pubmed reference: 2557121.
1971 Percy, D.H., Jortner, B.S. :
Feline lipidosis. Light and electron microscope studies Archives of Pathology 92:136-144, 1971.
1970 Crisp, C.E., Ringler, D.H., Abrams, G.D., Radin, N.S., Brenkert, A. :
Lipid storage disease in a Siamese cat Journal of the American Veterinary Medical Association 156:616-622, 1970. Pubmed reference: 5461697.

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  • Created by Frank Nicholas on 26 Nov 2007
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Sep 2012
  • Changed by Frank Nicholas on 29 Oct 2016
  • Changed by Frank Nicholas on 20 May 2017