Genetic analysis of TTF2 gene in congenital hypothyroid infants with thyroid dysgenesis

Thyroid transcription factor 2 (ttf2) also known as foxe1 is one of the candidate genes thought to has been involved in thyroid development. impairment in this gene has been reported in a few cases of patients with congenital hypothyroidism resulting from thyroid dysgenesis (td). in this study we analyzed the entire coding-region of ttf2 genes in 50 infants who were referred to the endocrine and metabolism research center of isfahan university of medical sciences td patients by direct sequencing. the analysis revealed a known polymorphism in ser 273 (tcc.tct) in 74% unrelated patients. furthermore, we found that the length of the alanine tract of ttf2 was 14 in some of our td patients. this data may point to a role of the ttf2 polya tract length in modulating genetic susceptibility to td.