OMIA:000424-9925 : Goitre, familial in Capra hircus (goat)
Links to MONDO diseases:
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: Goitre is the enlargement of the thyroid gland, causing a swelling in the front of the neck. The condition can develop due to nutritional iodine deficiencies but familial forms of this disorder have been identified in several species. The molecular basis been determined for familial goitre in cattle and goats. 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."
Have human generated variants been created, e.g. through genetic engineering and gene editing
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).
Nederlandse Landgeit, Netherlands (Goat) (VBO_0009749).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|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|
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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|
|264||Nederlandse Landgeit, Netherlands (Goat)||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|
Cite this entry
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.|
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