OMIA 001795-9685 : Niemann-Pick disease, type A in Felis catus

In other species: dog , raccoon , cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 257200 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Molecular basis: By sequencing the most likely comparative functional candidate gene, SMPD1, in an affected mixed-breed cat, Takaichi et al. (2020) identified "a nonsense mutation (c.1017G>A) in the SMPD1 gene" as the likely causal variant. They also observed "a decrease of SMPD1 mRNA expression, and reduced acid sphingomyelinase immunoreactivity".

Clinical features: Takaichi et al. (2020): "A 4-month-old female mixed-breed cat showed gait disturbance and eventual dysstasia with intention tremor and died at 14 months of age. Postmortem histological analysis revealed degeneration of neuronal cells, alveolar epithelial cells, hepatocytes, and renal tubular epithelial cells. Infiltration of macrophages was observed in the nervous system and visceral organs. The cytoplasm of neuronal cells was filled with Luxol fast blue (LFB)-negative and periodic acid-Schiff (PAS)-negative granules, and the cytoplasm of macrophages was LFB-positive and PAS-negative. Ultrastructurally, concentric deposits were observed in the brain and visceral organs."

Breed: Siamese.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal Felis catus D1 NC_018732.3 (65188287..65192945) SMPD1 Homologene, Ensembl, NCBI gene

Variants

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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Niemann-Pick disease, type A SMPD1 nonsense (stop-gain) D1 c.1017G>A p.(W339X) 2020 32347185

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.
2020 Takaichi, Y., Chambers, J.K., Kok, M.K., Uchiyama, H., Haritani, M., Hasegawa, D., Nakayama, H., Uchida, K. :
Feline Niemann-Pick Disease With a Novel Mutation of <i>SMPD1</i> Gene. Vet Pathol :300985820921810, 2020. Pubmed reference: 32347185. DOI: 10.1177/0300985820921810.
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.
1987 Baker, H.J., Wood, P.A., Wenger, D.A., Walkley, S.U., Inui, K., Kudoh, T., Rattazzi, M.C., Riddle, B.L. :
Sphingomyelin lipidosis in a cat. Vet Pathol 24:386-91, 1987. Pubmed reference: 3672804.
Castagnaro, M., Alroy, J., Ucci, A.A., Glew, R.H. :
Lectin histochemistry and ultrastructure of feline kidneys from six different storage diseases. Virchows Arch B Cell Pathol Incl Mol Pathol 54:16-26, 1987. Pubmed reference: 2892300. DOI: 10.1007/BF02899193.
1984 Walkley, S.U., Baker, H.J. :
Sphingomyelin lipidosis in a cat: Golgi studies. Acta Neuropathol 65:138-44, 1984. Pubmed reference: 6441439.
1982 Snyder, S.P., Kingston, R.S., Wenger, D.A. :
Niemann-Pick disease. Sphingomyelinosis of Siamese cats. Am J Pathol 108:252-4, 1982. Pubmed reference: 6765735.
1980 Wenger, D.A., Sattler, M., Kudoh, T., Synder, S.P., Kingston, R.S. :
Niemann-Pick disease: a genetic model in Siamese cats Science 208:1471-1473, 1980. Pubmed reference: 7189903.
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.
Kurihara, Y., Mochizuki, H. :
[Electron microscopic studies on feline GI-gangliosidosis with similarities to Tay-Sachs disease]. Shinkei Kenkyu No Shimpo 14:347-57, 1970. Pubmed reference: 5465880.

Edit History


  • Created by Frank Nicholas on 03 May 2013
  • Changed by Frank Nicholas on 14 May 2020