title: Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis.
abstract: Permanent congenital hypothyroidism (CH) has an incidence of 1/3000-4000 newborns and is among the most frequent cause of mental retardation and neurological alterations in children. In 80% to 85% of cases CH is associated with thyroid dysgenesis. A group of 61 patients with CH (22 with agenesis, 18 with ectopy, 1 with hypoplasia, and 20 cases with CH without thyroid enlargement but not further characterized) and 30 normal subjects were examined for the presence of mutations in the gene encoding the thyroid transcription factor 1 (TTF-1). The coding-region of the TTF-1 gene was analyzed in all cases by the single stranded conformational polymorphism (SSCP) and no mutations were detected. Direct sequencing also carried out in patients with thyroid agenesis confirmed the absence of mutations or polymorphisms in the TTF-1 gene. The absence of mutations in the TTF-1 gene in our samples indicates that the mutations in the TTF-1 gene are not a frequent cause of CH.
authors.affiliation: Stazione Zoologica A. Dohrn, Napoli, Naples, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Lapi
authors.forename: P E
authors.initials: PE
authors.lastname: Macchia
authors.forename: L
authors.initials: L
authors.lastname: Chiovato
authors.forename: E
authors.initials: E
authors.lastname: Biffali
authors.forename: L
authors.initials: L
authors.lastname: Moschini
authors.forename: D
authors.initials: D
authors.lastname: Larizza
authors.forename: M
authors.initials: M
authors.lastname: Baserga
authors.forename: A
authors.initials: A
authors.lastname: Pinchera
authors.forename: G
authors.initials: G
authors.lastname: Fenzi
authors.forename: R
authors.initials: R
authors.lastname: Di Lauro
mesh_terms: D003409:Congenital Hypothyroidism; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D009626:Terminology as Topic; D013959:Thyroid Diseases / Q000151:congenital* / Q000209:etiology / 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