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Mutations in the Gene Encoding Paired Box Domain (Pax8) Are Not a Frequent Cause of Congenital Hypothyroidism (Ch) in Iranian Patients With Thyroid Dysgenesis; [As Mutacoes No Gene Pax8 Nao Constituem Uma Causa Frequente De Hipotireoidismo Congenito Em Pacientes Iranianos Com Disgenesia Tiroidiana] Publisher Pubmed



Mahjoubi F1 ; Mohammadi MM1 ; Montazeri M1 ; Aminii M2 ; Hashemipour M2
Authors
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Authors Affiliations
  1. 1. Clinical Genetic Department, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
  2. 2. Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Arquivos Brasileiros de Endocrinologia e Metabologia Published:2010


Abstract

Objective: Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis. Subjects and methods: The patients were classified in two groups as agenesis and ectopic based on biochemical and para clinical tests. By employing PCR, Single Strand Conformation Polymorphism (SSCP) and sequencing, exons 3 to 12 of PAX8 gene with their exon-intron boundaries were studied. Results: No mutation was found in these patients in any of the exons. Conclusion: Our results, once again, indicate that the PAX8 mutation rate is very low and can only explain a minority of the cases. Therefore, it is highly needed to further investigate the genes controlling development and function of thyroid.
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