Publication: Duox2 variants are a frequent cause of congenital primary hypothyroidism in thai patients
Issued Date
2020-12-01
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20493614
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2-s2.0-85098268469
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Mahidol University
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SCOPUS
Bibliographic Citation
Endocrine Connections. Vol.9, No.11 (2020), 1121-1134
Suggested Citation
Kinnaree Sorapipatcharoen, Thipwimol Tim-Aroon, Pat Mahachoklertwattana, Wasun Chantratita, Nareenart Iemwimangsa, Insee Sensorn, Bhakbhoom Panthan, Poramate Jiaranai, Saisuda Noojarern, Patcharin Khlairit, Sarunyu Pongratanakul, Chittiwat Suprasongsin, Manassawee Korwutthikulrangsri, Chutintorn Sriphrapradang, Preamrudee Poomthavorn Duox2 variants are a frequent cause of congenital primary hypothyroidism in thai patients. Endocrine Connections. Vol.9, No.11 (2020), 1121-1134. doi:10.1530/EC-20-0411 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/60876
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Title
Duox2 variants are a frequent cause of congenital primary hypothyroidism in thai patients
Author(s)
Kinnaree Sorapipatcharoen
Thipwimol Tim-Aroon
Pat Mahachoklertwattana
Wasun Chantratita
Nareenart Iemwimangsa
Insee Sensorn
Bhakbhoom Panthan
Poramate Jiaranai
Saisuda Noojarern
Patcharin Khlairit
Sarunyu Pongratanakul
Chittiwat Suprasongsin
Manassawee Korwutthikulrangsri
Chutintorn Sriphrapradang
Preamrudee Poomthavorn
Thipwimol Tim-Aroon
Pat Mahachoklertwattana
Wasun Chantratita
Nareenart Iemwimangsa
Insee Sensorn
Bhakbhoom Panthan
Poramate Jiaranai
Saisuda Noojarern
Patcharin Khlairit
Sarunyu Pongratanakul
Chittiwat Suprasongsin
Manassawee Korwutthikulrangsri
Chutintorn Sriphrapradang
Preamrudee Poomthavorn
Other Contributor(s)
Abstract
© 2020 The authors Published by Bioscientifica Ltd. Objective: To identify the genetic etiologies of congenital primary hypothyroidism (CH) in Thai patients. Design and methods: CH patients were enrolled. Clinical characteristics including age, signs and symptoms of CH, pedigree, family history, screened thyroid-stimulating hormone results, thyroid function tests, thyroid imaging, clinical course and treatment of CH were collected. Clinical exome sequencing by next-generation sequencing was performed. In-house gene list which covered 62 potential candidate genes related to CH and thyroid disorders was developed for targeted sequencing. Sanger sequencing was performed to validate the candidate variants. Thyroid function tests were determined in the heterozygous parents who carried the same DUOX2 or DUOXA2 variants as their offsprings. Results: There were 118 patients (63 males) included. Mean (SD) age at enrollment was 12.4 (7.9) years. Forty-five of 118 patients (38%) had disease-causing variants. Of 45 variants, 7 genes were involved (DUOX2, DUOXA2, TG, TPO, SLC5A5, PAX8 and TSHR). DUOX2, a gene causing thyroid dyshormonogenesis, was the most common defective gene (25/45, 56%). The most common DUOX2 variant found in this study was c.1588A>T. TG and TPO variants were less common. Fourteen novel variants were found. Thyroid function tests of most parents with heterozygous state of DUOX2 and DUOXA2 variants were normal. Conclusions: DUOX2 variants were most common among Thai CH patients, while TG and TPO variants were less common. The c.1588A>T in DUOX2 gene was highly frequent in this population.