OMIA 000536-9685 : Hypothyroidism in Felis catus |
In other species:
chicken
,
dog
,
horse
,
goat
,
sheep
Possibly relevant human trait(s) and/or gene(s) (MIM number):
274500
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2015
Cross-species summary:
Deficiency of thyroid gland activity.
Also known as Goiterous congenital hypothyroidism; Congenital hypothyroidism; Thyroid dyshormonogenesis
History:
The occurrence of this disorder in a family of Domestic shorthair cats was reported by Mazrier et al. (2003)
Inheritance:
In the family reported by Mazrier et al. (2003), autosomal recessive inhetitance was observed.
Molecular basis:
By partially sequencing a strong candidate gene Morrow et al. (2006) reported the molecular basis of this disorder in Domestic shorthair cats as being very likely due to an 8bp deletion in intron 9 of the gene for the enzyme thyroid peroxidase (TPO). Further investigation by the same team identified a causal missense mutation in the TPO gene (c.1333G>A; p.Ala445Thr) (Giger et al., 2015).
Breed:
Domestic shorthair.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TPO | thyroid peroxidase | Felis catus | A3 | NC_018725.3 (142360654..142315776) | TPO | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| 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 | Hypothyroidism | TPO | missense | c.1333G>A | p.A445T | 2015 | Reference not in PubMed; see OMIA 000536-9685 for reference details |
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 | Giger, U., Raj, K., Murrow, C.V., Traas, A., Erat, A.M., van Hoeven, M., Mazrier, H., Haskins, M.E. : | |
| Congenital hypothyroidism with goiter in cats due to a TPO mutation. J Vet Intern Med 29:448; Abstract ESVE-O-4, 2015. DOI: 10.1111/jvim.12491. | ||
| 2011 | Bojanic, K., Acke, E., Jones, B. : | |
| Congenital hypothyroidism of dogs and cats: A review. N Z Vet J 59:115-22, 2011. Pubmed reference: 21541884. DOI: 10.1080/00480169.2011.567964. | ||
| 2006 | Morrow, C.V., Traas, A., Tcherneva, E., Huff, A.M., Van Hoeven, M., Mazrier, H., Haskins, M.E., Giger, U. : | |
| Molecular characterization of congenital goiterous hypothyroidism due to thyroid peroxidase deficiency in domestic shorthair cats. 2006 Merck/Merial National Veterinary Scholar Symposium: Creating the gumbo of progress, August 2006, Baton Rouge, Louisiana USA; http://www.vetmed.lsu.edu/Web_pdfs/Symposium_2006_Program.pdf Abstract 31:, 2006. | ||
| 2003 | Mazrier, H., French, A., Ellinwood, N.M., Van Hoeven, M., Zwiegle, J., O’Donnell, P., Jezyk, P.F., Haskins, M.E., Giger, U. : | |
| Goiterous congenital hypothyroidism caused by thyroid peroxidase deficiency in a family of Domestic Shorthair cats Journal of Internal Veterinary Medicine 17:395-396 (abstract 67), 2003. | ||
| 2001 | Tobias, S., Labato, M.A. : | |
| Identifying and managing feline congenital hypothyroidism Veterinary Medicine 96:719-+, 2001. | ||
| 1993 | Rand, J.S., Levine, J., Best, S.J., Parker, W. : | |
| Spontaneous Adult-Onset Hypothyroidism in a Cat Journal of Veterinary Internal Medicine 7:272-276, 1993. Pubmed reference: 8263845. | ||
| Sullivan, P., Gompf, R., Schmeitzel, L., Clift, R., Cottrell, M., Mcdonald, T.P. : | ||
| Altered Platelet Indices in Dogs with Hypothyroidism and Cats with Hyperthyroidism American Journal of Veterinary Research 54:2004-2009, 1993. Pubmed reference: 8116929. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 15 Sep 2011
- Changed by Frank Nicholas on 17 Nov 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Mar 2012
- Changed by Hamutal Mazrier on 29 Jan 2015