OMIA:000438-9685 : Haemophilia B in Felis catus |
In other species: dog , horse , pig
Categories: Haematopoietic system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 306900 (trait) , 300746 (gene)
Links to MONDO diseases:
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
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 127 | Domestic Longhair | Haemophilia B | F9 | missense | Naturally occurring variant | Felis_catus_9.0 | X | g.117091961G>A | 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