Abstract
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. doi: http://dx.doi.org/10.12669/pjms.291(Suppl).3526 How to cite this:Mahjoubi F, Hashemipour M, Moshiri F, Iranpour R, Amini M, Hovsepian S, et al. Genetic analysis of TTF2 gene in congenital hypothyroid infants with thyroid dysgenesis. Pak J Med Sci 2013;29(1)Suppl:325-328. doi: http://dx.doi.org/10.12669/pjms.291(Suppl).3526 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Highlights
Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disease that causes irreversible mental impairments if therapeutic intervention is delayed.[1]
In current survey we aimed to screen the presence of mutations in transcription factor 2 (TTF2) gene in patients with thyroid dysgenesis
Families were identified through neonatal screening program of CH in Endocrine and Metabolism Research Center of Isfahan University of Medical Sciences during August 2002 to April 2005
Summary
Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disease that causes irreversible mental impairments if therapeutic intervention is delayed.[1] CH occurs with rate of about 1/3000-4000 newborns in North America and Europe.[2] data through neonatal screening programs has revealed high incidence about 1/974 in Tehran and 1/357 in Isfahan. 1. Frouzandeh Mahjoubi, 2 Mahin Hashemipour, 3. Of Medical Biotechnology, National Institute of Genetic Engineering & Biotechnology (NIGEB), Tehran, Iran. 2, 4-7:Isfahan Endocrine & Metabolism Research Center, 2,6,7: Child Growth and Development Research Center, 2,4-7: Isfahan University of Medical Sciences, Isfahan, Iran
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