| Abstract | The cause of sporadic simple goiter is unknown in most cases. Family studies have suggested that this disorder may have a genetic component in some patients. We have previously demonstrated that some cases of endemic and nonendemic simple goiter are associated with a mutation within exon 10 of the thyroglobulin gene. Here we report a study of 50 cases diagnosed as having nonendemic simple goiter, and found 1 case with a large heterozygous deletion within the thyroglobulin gene. The deletion involves the promoter region and the 11 first exons of this gene and is associated with a euthyroid state. We hypothesize that the absence of thyroglobulin synthesis from the deleted allele may be responsible for a decreased level of thyroglobulin mRNA. Euthyroidism would be achieved by thyrotropin (TSH) stimulation but at the expense of goiter development. |
| Authors | R González-Sarmiento, J Corral, M T Mories, J J Corrales, E Miguel-Velado, J M Miralles-Garcia
(Affiliation: Departamento de Medicina, Universidad de Salamanca, Spain.)
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| Journal | Thyroid : official journal of the American Thyroid Association
(Thyroid)
Vol. 11
Issue 8
Pg. 789-93
(Aug 2001)
ISSN: 1050-7256 United States |
| PMID | 11525274
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
| Chemical References |
|
| Topics |
- Aged
- Alleles
- Chromosome Mapping
- Exons
(genetics)
- Female
- Gene Deletion
- Goiter
(genetics)
- Heterozygote
- Humans
- Immunohistochemistry
(methods)
- Polymerase Chain Reaction
- Promoter Regions, Genetic
(genetics)
- Reference Values
- Staining and Labeling
- Thyroglobulin
(genetics)
- Thyroid Gland
(physiopathology)
|
