title: Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis.
abstract: Thyroid transription factor-1 (TTF-1) is a homeodomain-containing nuclear transcription factor, important in regulation of the thyroid-specific genes thyroglobulin (Tg), thyroperoxidase (TPO), and thyrotropin receptor (TSHR). TTF-1 is an early biochemical marker of thyroid differentiation, essential for thyroid development and maintenance of the thyroid differentiated state. It is possible that mutations in titf1 gene encoding TTF-1 could result in failure of the thyroid gland to develop. Single strand conformation polymorphism (SSCP) was used to detect the presence of titf1 gene mutation in a group of 15 patients with congenital hypothyroidism. The etiology of the congenital hypothyroidism included thyroid agenesis (9), sublingual ectopic thyroid (4), and severe hypoplasia (2). The analysis did not identify any titf1 gene mutation, among these patients. These results rule out the presence of titf1 mutations, at least in the coding region, in our thyroid dysgenesis patients. Mutations in titf1 coding region may be an extremely rare event, and was not detected in our small sample size or, alternatively, such a mutant might even be viable since TTF-1 plays an important role in lung, brain, and pituitary development.
authors.affiliation: Research Laboratory, Endocrinology Division, Istituto di Medicina Sperimentale, Rome, Italy.
authors.forename: M G
authors.initials: MG
authors.lastname: Perna
authors.forename: D
authors.initials: D
authors.lastname: Civitareale
authors.forename: V
authors.initials: V
authors.lastname: De Filippis
authors.forename: M
authors.initials: M
authors.lastname: Sacco
authors.forename: C
authors.initials: C
authors.lastname: Cisternino
authors.forename: V
authors.initials: V
authors.lastname: Tassi
mesh_terms: D004247:DNA / Q000032:analysis; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007453:Iodide Peroxidase / Q000235:genetics / Q000378:metabolism; D008970:Molecular Weight; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013954:Thyroglobulin / Q000235:genetics / Q000378:metabolism; D013959:Thyroid Diseases / Q000151:congenital* / Q000235:genetics*; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C000614412:NKX2-1 protein, human; D009687:Nuclear Proteins; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors; D004247:DNA; D013954:Thyroglobulin; D007453:Iodide Peroxidase