title: Monoallelic deletion in the 5' region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter.
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.affiliation: Departamento de Medicina, Universidad de Salamanca, Spain.
authors.forename: R
authors.initials: R
authors.lastname: González-Sarmiento
authors.forename: J
authors.initials: J
authors.lastname: Corral
authors.forename: M T
authors.initials: MT
authors.lastname: Mories
authors.forename: J J
authors.initials: JJ
authors.lastname: Corrales
authors.forename: E
authors.initials: E
authors.lastname: Miguel-Velado
authors.forename: J M
authors.initials: JM
authors.lastname: Miralles-Garcia
mesh_terms: D000368:Aged; D000483:Alleles; D002874:Chromosome Mapping; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006042:Goiter / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics; D012016:Reference Values; D013194:Staining and Labeling; D013954:Thyroglobulin / Q000235:genetics*; D013961:Thyroid Gland / Q000503:physiopathology
chemical_list: D013954:Thyroglobulin