OMIA 000424-9925 : Goitre, familial in Capra hircus |
In other species:
cattle
,
dog
,
sheep
,
pig
,
domestic cat
,
chicken
,
bongo
,
water buffalo
,
golden hamster
,
American black bear
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
274700 (trait)
,
188450 (gene)
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
1993
Cross-species summary:
Enlargement of the thyroid gland, causing a swelling in the front of the neck. Familial forms of this disorder have been identified in several species. But only in cattle and goats has the molecular basis been determined. Also spelt goiter.
Species-specific description:
In Dutch goats, this disorder is due to a nonsense mutation in the thyroglobulin gene.
Molecular basis:
Veenboer and de Vijlder (1993) reported the causal mutation in the goat TG gene as being "a C-->G point mutation [at nucleotide 945] in exon 8 causing a change from TAC (Tyr)-->TAG (termination signal) at amino acid position 296."
Genetic testing:
The causal mutation creates a KpnI recognition site, thereby providing a genotyping test based on the causal mutation (Veenboer and de Vijlder, 1993).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TG | thyroglobulin | Capra hircus | 14 | NC_030821.1 (73523519..73754209) | TG | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 264 | Dutch Landrace | Goitre, familial | TG | nonsense (stop-gain) | Naturally occurring variant | ARS1 | 14 | g.73537317C>G | c.945C>G | p.(Y296*) | ENSEMBL Variant Effect Predictor: transcript ENSCHIT00000040333.1: p.(Y315*) | 1993 | 8380383 | The genomic location on ARS1 was determined by Katie Eager, EMAI, NSW Department of Primary Industries |
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.
| 2006 | Rivolta, C.M., Targovnik, H.M. : | |
| Molecular advances in thyroglobulin disorders. Clin Chim Acta 374:8-24, 2006. Pubmed reference: 16870170. DOI: 10.1016/j.cca.2006.05.043. | ||
| 2005 | Ozmen, O., Haligur, M. : | |
| Immunohistochemical observations on TSH secreting cells in pituitary glands of goat kids with congenital goitre. J Vet Med A Physiol Pathol Clin Med 52:454-9, 2005. Pubmed reference: 16268956. DOI: 10.1111/j.1439-0442.2005.00761.x. | ||
| 2002 | de Vijlder, J.J.M. : | |
| Dutch goats with a thyroglobulin mutation Thyroid 12:181, 2002. Pubmed reference: 11924552. DOI: 10.1089/105072502753522446. | ||
| 1998 | Bhikane, A.U., Aher, V.D., Moregaonkar, S.D., Rajguru, D.N. : | |
| Congenital goitre in kids Indian Veterinary Journal 75:654, 1998. | ||
| 1997 | Hoque, M., Chattopadhyay, S.K., Singh, G.R. : | |
| Congenital goitre in a kid - a case report Indian Veterinary Journal 74:450-451, 1997. | ||
| 1993 | Medeiros-Neto, G., Targovnik, H.M., Vassart, G. : | |
| Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism. Endocr Rev 14:165-83, 1993. Pubmed reference: 8325250. | ||
| Veenboer, G.J.M., de Vijlder, J.J.M. : | ||
| Molecular Basis of the Thyroglobulin Synthesis Defect in Dutch Goats Endocrinology 132:377-381, 1993. Pubmed reference: 8380383. | ||
| 1989 | Sterk, A., Vandijk, J.E., Veenboer, G.J.M., Moorman, A.F.M., de Vijlder, J.J.M. : | |
| Normal-Sized Thyroglobulin Messenger Ribonucleic Acid in Dutch Goats with a Thyroglobulin Synthesis Defect Is Translated into a 35,000 Molecular Weight N-Terminal Fragment Endocrinology 124:477-483, 1989. Pubmed reference: 2642421. | ||
| van Ommen, G.J.B., Sterk, A., Mercken, L.O.Y., Arnberg, A.C., Baas, F., Vijlder, J.J.M. de : | ||
| Studies on the Structures of the Normal and Abnormal Goat Thyroglobulin Genes Biochimie 71:211-221, 1989. Pubmed reference: 2495821. | ||
| 1987 | Kok, K., Dijk, J.E. van, Sterk, A., Baas, F., Ommen, G.J.B. van, de Vijlder, J.J.M. : | |
| Autosomal recessive inheritance of goiter in Dutch goats Journal of Heredity 78:298-300, 1987. Pubmed reference: 3680925. | ||
| 1985 | Kok, K., Dijk, J.E. van, Fokkens, R.H., Gons, M.H., Vijlder, J.J.M. de : | |
| Prenatal diagnosis of a thyroglobulin synthesis defect in goats Acta Endocrinologica 110:83-89, 1985. Pubmed reference: 4036507. | ||
| 1978 | Vijlder, J.J.M. de, Voorthuizen, W.F. van, Dijk, J.E. van, Rijnberh, A., Tegelaers, W.H.H. : | |
| Hereditary congenital goiter with thyroglobulin deficiency in a breed of goats Endocrinology 102:1214-1222, 1978. Pubmed reference: 744019. | ||
| Voorthuizen, W.F. van, Dinsart, C., Flavell, R.A., de Vijlder, J.J.M., Vassart, G. : | ||
| Abnormal cellular localization of thyroglobulin mRNA associated with hereditary congenital goiter and thyroglobulin deficiency Proceedings of the National Academy of Sciences 75:74-78, 1978. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 11 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 03 Feb 2012