OMIA:001210-9685 : Hyperlipoproteinaemia in Felis catus
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 144250 (trait) , 238600 (trait)
Links to MONDO diseases: No links.
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"
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LPL||lipoprotein lipase||Felis catus||B1||NC_058371.1 (37929924..37905816)||LPL||Homologene, Ensembl , NCBI gene|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|131||Hyperlipoproteinaemia||LPL||missense||Naturally occurring variant||Felis_catus_9.0||B1||g.38078551C>T||c.1315G>A||p.(G439R)||NM_001042567.1; NP_001036032.1; published as c.1234G>A and p.(G412R); coordinates in the table have been updated to a recent reference genome and / or transcript||1996||8636438||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
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 .|
- 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