OMIA 001210-9685 : Hyperlipoproteinaemia in Felis catus

In other species: dog , horse

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 144250 , 238600

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1996

Cross-species summary: Also known as Hypertriglyceridemia or Lipoprotein lipase deficiency or chylomicronemia.

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Ginzinger et al. (1996) showed that the causal mutation for this disorder is "a point mutation in amino acid residue 412 (Gly412Arg) in the COOH terminus of the cat LPL gene. This residue corresponds to codon 409 in the human LPL gene and is highly conserved in the LPL genes of at least seven other species"

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LPL lipoprotein lipase Felis catus B1 NC_018726.3 (38098460..38074339) LPL 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 Year Published PubMed ID(s) Acknowledgements
Hyperlipoproteinaemia LPL missense p.G412R 1996 8636438

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.
2003 Kanchuk, M.L., Backus, R.C., Calvert, C.C., Morris, J.G., Rogers, Q.R. :
Weight gain in gonadectomized normal and lipoprotein lipase-deficient male domestic cats results from increased food intake and not decreased energy expenditure Journal of Nutrition 133:1866-74, 2003. Pubmed reference: 12771331.
2002 Reginato, C.F., Backus, R.C., Rogers, Q.R. :
Improved growth of lipoprotein lipase deficient kittens by feeding a low-fat, highly digestible diet Journal of Nutritional Biochemistry 13:149-156, 2002. Pubmed reference: 11893479.
2000 Lu, G.Q., Excoffon, K.J.D.A., Wilson, J.E., McManus, B.M., Rogers, Q.R., Miao, L., Kastelein, J.J.P., Lewis, M.E.S., Hayden, M.R. :
Phenotypic correction of feline lipoprotein lipase deficiency by adenoviral gene transfer Human Gene Therapy 11:21-32, 2000. Pubmed reference: 10646636. DOI: 10.1089/10430340050016120.
1999 Ginzinger, D.G., Clee, S.M., Dallongeville, J., Lewis, M.E.S., Henderson, H.E., Bauje, E., Rogers, Q.R., Jensen, D.R., Eckel, R.H., Dyer, R., Innis, S., Jones, B., Fruchart, J.C., Hayden, M.R. :
Lipid and lipoprotein analysis of cats with lipoprotein lipase deficiency European Journal of Clinical Investigation 29:17-26, 1999. Pubmed reference: 10092984.
1997 Gunnmoore, D.A., Watson, T.D.G., Dodkin, S.J., Blaxter, A.C., Crispin, S.M., Gruffyddjones, T.J. :
Transient hyperlipidaemia and anaemia in kittens Veterinary Record 140:355-359, 1997. Pubmed reference: 9133718.
1996 Ginzinger, D.G., Lewis, M.E.S., Ma, Y.H., Jones, B.R., Liu, G.Q., Jones, S.D., Hayden, M.R. :
A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats Journal of Clinical Investigation 97:1257-1266, 1996. Pubmed reference: 8636438. DOI: 10.1172/JCI118541.
1994 Wisselink, M.A., Koeman, J.P., Wensing, T., Debruijne, J., Willemse, T. :
Hyperlipoproteinaemia associated with atherosclerosis and cutaneous xanthomatosis in a cat Veterinary Quarterly 16:199-202, 1994. Pubmed reference: 7740743.
1993 Crispin, S.M. :
Ocular Manifestations of Hyperlipoproteinaemia Journal of Small Animal Practice 34:500-506, 1993.
Jones, B.R. :
Inherited Hyperchylomicronaemia in the Cat Journal of Small Animal Practice 34:493-499, 1993.
1992 Watson, T.D.G., Gaffney, D., Mooney, C.T., Thompson, H., Packard, C.J., Shepherd, J. :
Inherited Hyperchylomicronaemia in the Cat - Lipoprotein Lipase Function and Gene Structure Journal of Small Animal Practice 33:207-212, 1992.
1990 Johnstone, A.C., Jones, B.R., Thompson, J.C., Hancock, W.S. :
The Pathology of an Inherited Hyperlipoproteinaemia of Cats Journal of Comparative Pathology 102:125-137, 1990. Pubmed reference: 2324336.
1989 Thompson, J.C., Johnstone, A.C., Jones, B.R., Hancock, W.S. :
The Ultrastructural Pathology of 5 Lipoprotein Lipase-Deficient Cats Journal of Comparative Pathology 101:251-262, 1989. Pubmed reference: 2584444.

Edit History


  • Created by Frank Nicholas on 26 Nov 2007
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Sep 2012