TTF2 Gene Mutation in Neonates with Congenital Hypothyroidism Caused by Thyroid Dysgenesis
Background: Thyroid transcription factor 2 (TTF2) or forkhead box E1 (FOXE1) is a polyalanine domain protein with an important role in the morphogenesis and development of thyroid gland. Mutations of TTF2 gene have been identified in neonates with congenital hypothyroidism caused by thyroid dysgenes...
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| Format: | Article |
| Language: | fas |
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Isfahan University of Medical Sciences
2012-07-01
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| Series: | مجله دانشکده پزشکی اصفهان |
| Online Access: | http://jims.mui.ac.ir/index.php/jims/article/view/1418 |
| _version_ | 1797705684455784448 |
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| author | Frouzande Mahjoubi Mahin Hashemipour Ramin Iranpour Massoud Amini Silva Hovsepian |
| author_facet | Frouzande Mahjoubi Mahin Hashemipour Ramin Iranpour Massoud Amini Silva Hovsepian |
| author_sort | Frouzande Mahjoubi |
| collection | DOAJ |
| description | Background: Thyroid transcription factor 2 (TTF2) or forkhead box E1 (FOXE1) is a polyalanine domain protein with an important role in the morphogenesis and development of thyroid gland. Mutations of TTF2 gene have been identified in neonates with congenital hypothyroidism caused by thyroid dysgenesis. In this study, the mutations of TTF2 gene were studied among these patients.
Methods: In this study, the entire TTF2 gene of 50 neonates with congenital hypothyroidism due to thyroid dysgenesis who referred to Isfahan Endocrine and Metabolism Research Center (Isfahan, Iran) was studied by direct DNA sequencing. The mutations were assessed after amplification of TTF2 gene by polymerase chain reaction (PCR) method. Mutations of each exon of TTF2 gene were evaluated by the adjacent primers of the whole encoding region.
Findings: We did not find any mutation in TTF2 gene. There was a serotonin polymorphism among 74% of studied patients. The length of TTF2 polyalanine tract was 14 amino acids in most patients.
Conclusion: The findings of this study indicated the possible correlation between TTF2 polyalanine tract length polymorphism and genetic susceptibility to thyroid dysgenesis among patients with congenital hypothyroidism.
Keywords: Congenital hypothyroidism, Thyroid transcription factor 2, Thyroid dysgenesis |
| first_indexed | 2024-03-12T05:40:01Z |
| format | Article |
| id | doaj.art-e71ca01d5ffa4e7eb0d77f2a4bcb8025 |
| institution | Directory Open Access Journal |
| issn | 1027-7595 1735-854X |
| language | fas |
| last_indexed | 2024-03-12T05:40:01Z |
| publishDate | 2012-07-01 |
| publisher | Isfahan University of Medical Sciences |
| record_format | Article |
| series | مجله دانشکده پزشکی اصفهان |
| spelling | doaj.art-e71ca01d5ffa4e7eb0d77f2a4bcb80252023-09-03T06:09:57ZfasIsfahan University of Medical Sciencesمجله دانشکده پزشکی اصفهان1027-75951735-854X2012-07-01301891065TTF2 Gene Mutation in Neonates with Congenital Hypothyroidism Caused by Thyroid DysgenesisFrouzande Mahjoubi0Mahin Hashemipour1Ramin Iranpour2Massoud Amini3Silva Hovsepian4Assistant Professor, Department of Cytogenetics, Iran Blood Transfusion Organization Research Center (IBTO), Tehran, IranProfessor, Endocrine and Metabolism Research Center, Child Growth and Development Research Center, Department of Pediatric Endocrinology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, IranAssistant Professor of Neonatology, Endocrine and Metabolism Research Center, Child Growth and Development Research Center, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, IranProfessor, Department of Endocrinology, School of Medicine, Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, IranResearch Assistant, Endocrine and Metabolism Research Center, Child Growth and Development Research Center, School of Medicine, Isfahan University of Medical Sciences, Isfahan, IranBackground: Thyroid transcription factor 2 (TTF2) or forkhead box E1 (FOXE1) is a polyalanine domain protein with an important role in the morphogenesis and development of thyroid gland. Mutations of TTF2 gene have been identified in neonates with congenital hypothyroidism caused by thyroid dysgenesis. In this study, the mutations of TTF2 gene were studied among these patients. Methods: In this study, the entire TTF2 gene of 50 neonates with congenital hypothyroidism due to thyroid dysgenesis who referred to Isfahan Endocrine and Metabolism Research Center (Isfahan, Iran) was studied by direct DNA sequencing. The mutations were assessed after amplification of TTF2 gene by polymerase chain reaction (PCR) method. Mutations of each exon of TTF2 gene were evaluated by the adjacent primers of the whole encoding region. Findings: We did not find any mutation in TTF2 gene. There was a serotonin polymorphism among 74% of studied patients. The length of TTF2 polyalanine tract was 14 amino acids in most patients. Conclusion: The findings of this study indicated the possible correlation between TTF2 polyalanine tract length polymorphism and genetic susceptibility to thyroid dysgenesis among patients with congenital hypothyroidism. Keywords: Congenital hypothyroidism, Thyroid transcription factor 2, Thyroid dysgenesishttp://jims.mui.ac.ir/index.php/jims/article/view/1418 |
| spellingShingle | Frouzande Mahjoubi Mahin Hashemipour Ramin Iranpour Massoud Amini Silva Hovsepian TTF2 Gene Mutation in Neonates with Congenital Hypothyroidism Caused by Thyroid Dysgenesis مجله دانشکده پزشکی اصفهان |
| title | TTF2 Gene Mutation in Neonates with Congenital Hypothyroidism Caused by Thyroid Dysgenesis |
| title_full | TTF2 Gene Mutation in Neonates with Congenital Hypothyroidism Caused by Thyroid Dysgenesis |
| title_fullStr | TTF2 Gene Mutation in Neonates with Congenital Hypothyroidism Caused by Thyroid Dysgenesis |
| title_full_unstemmed | TTF2 Gene Mutation in Neonates with Congenital Hypothyroidism Caused by Thyroid Dysgenesis |
| title_short | TTF2 Gene Mutation in Neonates with Congenital Hypothyroidism Caused by Thyroid Dysgenesis |
| title_sort | ttf2 gene mutation in neonates with congenital hypothyroidism caused by thyroid dysgenesis |
| url | http://jims.mui.ac.ir/index.php/jims/article/view/1418 |
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