1. Monoallelic Deletion in the 5' Gene as a Cause of Sporadic Nonendemic Simple Goiter Region of the Thyroglobulin
- Author
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González-Sarmiento, Rogelio, Corral, Javier, Mories, María Teresa, Corrales, Juan J., Miguel-Velado, Eduardo, and Miralles-García, José M.
- 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.
- Published
- 2001
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