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) (MIM number): 274700

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.

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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
Dutch Landrace Goitre, familial TG nonsense (stop-gain) c.945C>G p.Y296* 1993 8380383

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