OMIA 000438-9685 : Haemophilia B in Felis catus

In other species: dog , horse , pig

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 306900 (trait) , 300746 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2005

Cross-species summary: Also called factor IX deficiency or Christmas disease. This is one of the two X-linked bleeding disorders, haemophilia A being the other. The fact that these two disorders are X-linked in all species reported to date provides strong support for Ohno's suggestion that the X chromosome has been highly conserved throughout evolution.

Species-specific name: see also: 'OMIA 001526-9685 : Factors IX and XII, combined deficiency of in Felis catus'

Molecular basis: By sequencing an obvious candidate gene (F9), Goree et al. (2005) reported different causative mutations in two affected cats: "Affected cat 1 had a single nucleotide change in exon 8 at the 1st nucleotide position of the codon encoding an arginine (CGA to TGA) at amino acid position 338. This mutation would be predicted to result in the appearance of a premature stop codon in the portion of the gene encoding much of the catalytic domain of the protein. Affected cat 2 had a single nucleotide change in exon 4 at the 2nd nucleotide position of the codon encoding amino acid 82 (TGT to TAT), which would be predicted to result in the substitution of a tyrosine for a cysteine. This substitution would likely result in disruption of a disulfide bond crucial to normal protein structure and function"

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
F9 coagulation factor IX Felis catus X NC_058386.1 (114343084..114374619) F9 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.

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
127 Domestic Longhair Haemophilia B F9 missense Naturally occurring variant Felis_catus_9.0 X g.117091961A c.383G>A p.(C128Y) NM_001009377.3; NP_001009377.1; published as p.(C82Y); coordinates in the table have been updated to a recent reference genome and / or transcript 2005 15822564 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
310 Haemophilia B F9 nonsense (stop-gain) Naturally occurring variant Felis_catus_9.0 X g.117111577C>T c.1150C>T p.(R384*) NM_001009377.3; NP_001009377.1; published as p.(R338*); coordinates in the table have been updated to a recent reference genome and / or transcript 2005 15822564 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.

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.
2005 Goree, M., Catalfamo, J.L., Aber, S., Boudreaux, M.K. :
Characterization of the mutations causing hemophilia B in 2 domestic cats. J Vet Intern Med 19:200-4, 2005. Pubmed reference: 15822564.
1993 Maggioprice, L., Dodds, W.J. :
Factor IX deficiency (hemophilia B) in a family of British Shorthair cats. Journal of the American Veterinary Medical Association 203:1702-1704, 1993. Pubmed reference: 8307821.
1988 Boudreaux, M.K., Dillon, A.R. :
The effect of danazol treatment on factor IX deficiency in cats. Vet Clin Pathol 17:84-5, 1988. Pubmed reference: 15162324.
Fogh, J.M., Fogh, I.T. :
Inherited coagulation disorders. Vet Clin North Am Small Anim Pract 18:231-43, 1988. Pubmed reference: 3282382.

Edit History


  • Created by Frank Nicholas on 18 Sep 2005
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Dec 2012
  • Changed by Imke Tammen2 on 02 Jun 2022