OMIA 000844-9685 : Pyruvate kinase deficiency of erythrocyte in Felis catus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 266200

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1997

Cross-species summary: Also known as PK deficiency

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Giger et al. (1997) identified a causative mutation as a splicing defect in the R/L-PK gene that gives rise to 13-bp deletion (Barrs et al., 2009). The gene symbol is now PKLR. Grahn et al. (2012) reported that the splicing defect and hence deletion is a consequence of a "a guanine to adenine transition in intron 5, 304 bp 3' of the exon 5 splice-donor site and 53 bp upstream from the exon 6 splice-acceptor site ["c.693+304G>A"]. The mechanism by which this mutation results in the erroneous splicing of exons 5 and 6 has yet to be determined."

Prevalence: Grahn et al. (2012) genotyped "14,179 cats representing 40 breeds or populations" for the causal (intronic) transition. The mutation was present in 13 breeds and two other populations (random-bred cats and unspecified cats). Within these 15 breeds/populations that have the mutation, its frequency ranges "from 0.078% in the Exotic Shorthair to 12.97% in the Bengal", with an average frequency of 9.35%.

Breeds: Abyssinian, Brazilian Somali.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PKLR pyruvate kinase deficiency Felis catus - no genomic information (-..-) PKLR 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
Domestic shorthair Pyruvate kinase deficiency of erythrocyte PKLR splicing c.693+304G>A 2012 23110753

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.
2015 Kushida, K., Giger, U., Tsutsui, T., Inaba, M., Konno, Y., Hayashi, K., Noguchi, K., Yabuki, A., Mizukami, K., Kohyama, M., Endo, Y., Yamato, O. :
Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan. J Vet Med Sci 77:743-6, 2015. Pubmed reference: 25716288. DOI: 10.1292/jvms.14-0600.
2012 Grahn, R.A., Grahn, J.C., Penedo, M.C., Helps, C.R., Lyons, L.A. :
Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. BMC Vet Res 8:207, 2012. Pubmed reference: 23110753. DOI: 10.1186/1746-6148-8-207.
2009 Barrs, VR., Giger, U., Wilson, B., Chan, CT., Lingard, AE., Tran, L., Seng, A., Canfield, PJ., Beatty, JA. :
Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats. Aust Vet J 87:39-44, 2009. Pubmed reference: 19178476. DOI: 10.1111/j.1751-0813.2008.00381.x.
2008 Kohn, B., Fumi, C. :
Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats. J Feline Med Surg 10:145-53, 2008. Pubmed reference: 18077199. DOI: 10.1016/j.jfms.2007.09.006.
van Geffen, C., Savary-Bataille, K., Chiers, K., Giger, U., Daminet, S. :
Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat. J Small Anim Pract 49:479-82, 2008. Pubmed reference: 12022416.
2007 Harvey, AM., Holt, PE., Barr, FJ., Rizzo, F., Tasker, S. :
Treatment and long-term follow-up of extrahepatic biliary obstruction with bilirubin cholelithiasis in a Somali cat with pyruvate kinase deficiency. J Feline Med Surg 9:424-31, 2007. Pubmed reference: 17475529. DOI: 10.1016/j.jfms.2007.02.003.
2006 Harvey, J.W. :
Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses. Vet Clin Pathol 35:144-56, 2006. Pubmed reference: 16783707.
2005 Kohn, B., Fumi, C., Seng, A., Giger, U. :
Anaemia due to erythrocytic pyruvate kinase deficiency in Somali and Abyssinian cats in Germany Kleintierpraxis 50:305-312, 2005.
Mansfield, CS., Clark, P. :
Pyruvate kinase deficiency in a Somali cat in Australia. Aust Vet J 83:483-5, 2005. Pubmed reference: 16119420.
2000 Kohn, B., Goldschmidt, MH., Hohenhaus, AE., Giger, U. :
Anemia, splenomegaly, and increased osmotic fragility of erythrocytes in Abyssinian and Somali cats. J Am Vet Med Assoc 217:1483-91, 2000. Pubmed reference: 11128538.
1997 Giger, U., Rajpurohit, Y., Wang, P., Ford, S., Kohn, B., Patterson, D.F., Beutler, E., Henthorn, P.S. :
Molecular basis of erythrocyte pyruvate kinase (R-PK) deficiency in cats Blood 90S:5, 1997.
1992 Ford, S., Giger, U., Duesberg, C., Beutler, E., Wang, P. :
Inherited erythrocyte pyruvate kinase (PK) deficiency causing haemolytic anaemia in an Abyssinian cat (Abstract) J Vet Intern Med. 6:123, 1992.

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