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International Journal of Molecular Medicine
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February 2013 Volume 31 Issue 2

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International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

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Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

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Article

A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism

  • Authors:
    • Ru-Hai Yi
    • Wen-Bin Zhu
    • Li-Yong Yang
    • Lan Lan
    • Yao Chen
    • Jin-Fu Zhou
    • Jing Wang
    • Yue-Qing Su
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology and Metabolism, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350001, P.R. China, Center of Neonatal Screening, Fujian Maternity and Child Health Care Hospital, Fuzhou, Fujian 350001, P.R. China, Bloodletting Room, Fujian Maternity and Child Health Care Hospital, Fuzhou, Fujian 350001, P.R. China
  • Pages: 467-470
    |
    Published online on: December 24, 2012
       https://doi.org/10.3892/ijmm.2012.1223
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Abstract

Congenital hypothyroidism (CH) is caused by thyroid hormone deficiency present at birth. DUOXA2 (dual oxidase maturation factor 2) is one of the prerequisites for thyroid hormone synthesis. The present study explored the novel mutations of DUOXA2 in CH patients. Genomic DNA was extracted from peripheral blood of 47 unrelated CH patients, their family members and 100 healthy controls. All 6 exons and their flanking sequences of the DUOXA2 gene were PCR amplified and sequenced. Sequencing results were compared with the standard. Compound heterozygosity with DUOXA2 gene mutations at c.413-414insA (Y138X) and c.738C>G (Y246X) was identified in one patient, and absent in 100 healthy controls. Among them, the c.413‑414insA (Y138X) mutation was a novel one. The patient with the c.413-414insA (Y138X) mutation had mild CH symptoms. This study is the first to report a novel c.413-414insA (Y138X) mutation for CH, thereby expanding the mutational spectrum of the DUOXA2 gene.
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1. 

Park SM, Clifton-Bligh RJ, Betts P and Chatterjee VK: Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. Clin Endocrinol (Oxf). 60:220–227. 2004. View Article : Google Scholar

2. 

Targovnik HM, Esperante SA and Rivolta CM: Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations. Mol Cell Endocrinol. 322:44–55. 2010. View Article : Google Scholar : PubMed/NCBI

3. 

Vaisman M, Rosenthal D and Carvalho D: Enzymes involved in thyroid iodide organification. Arq Bras Endocrinol Metabol. 48:9–15. 2004.(In Portuguese).

4. 

Vigone MC, Fugazzola L, Zamproni I, et al: Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. Hum Mutat. 26:3952005. View Article : Google Scholar : PubMed/NCBI

5. 

De Deken X, Wang D, Dumont J, et al: Characterization of ThOX proteins as components of the thyroid H(2)O(2)-generating system. Exp Cell Res. 273:187–196. 2002.PubMed/NCBI

6. 

Moreno JC, Bikker H, Kempers MJ, et al: Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med. 347:95–102. 2002. View Article : Google Scholar : PubMed/NCBI

7. 

Varela V, Rivolta CM, Esperante SA, et al: Three mutations (p.Q36H, pG418fsX482, and gIVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. Clin Chem. 52:182–191. 2006.PubMed/NCBI

8. 

Hoste C, Rigutto S, Van Vliet G, et al: Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism. Hum Mutat. 31:E1304–E1319. 2010. View Article : Google Scholar : PubMed/NCBI

9. 

Pfarr N, Korsch E, Kaspers S, et al: Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. Clin Endocrinol (Oxf). 65:810–815. 2006. View Article : Google Scholar : PubMed/NCBI

10. 

Grasberger H and Refetoff S: Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. J Biol Chem. 281:18269–18272. 2006. View Article : Google Scholar : PubMed/NCBI

11. 

Zamproni I, Grasberger H, Cortinovis F, et al: Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab. 93:605–610. 2008. View Article : Google Scholar : PubMed/NCBI

12. 

Knobel M and Medeiros-Neto G: An outline of inherited disorders of the thyroid hormone generating system. Thyroid. 13:771–802. 2003. View Article : Google Scholar : PubMed/NCBI

13. 

Zhu W, Wang Z, Chen H, et al: Analysis of four-year congenital hypothyroidism neonatal screening in Jiudi City, Fujian Province. Zhong Guo You Sheng You Yu Za Zhi. 12:97–98. 2005.

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Copy and paste a formatted citation
Spandidos Publications style
Yi R, Zhu W, Yang L, Lan L, Chen Y, Zhou J, Wang J and Su Y: A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. Int J Mol Med 31: 467-470, 2013.
APA
Yi, R., Zhu, W., Yang, L., Lan, L., Chen, Y., Zhou, J. ... Su, Y. (2013). A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. International Journal of Molecular Medicine, 31, 467-470. https://doi.org/10.3892/ijmm.2012.1223
MLA
Yi, R., Zhu, W., Yang, L., Lan, L., Chen, Y., Zhou, J., Wang, J., Su, Y."A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism". International Journal of Molecular Medicine 31.2 (2013): 467-470.
Chicago
Yi, R., Zhu, W., Yang, L., Lan, L., Chen, Y., Zhou, J., Wang, J., Su, Y."A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism". International Journal of Molecular Medicine 31, no. 2 (2013): 467-470. https://doi.org/10.3892/ijmm.2012.1223
Copy and paste a formatted citation
x
Spandidos Publications style
Yi R, Zhu W, Yang L, Lan L, Chen Y, Zhou J, Wang J and Su Y: A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. Int J Mol Med 31: 467-470, 2013.
APA
Yi, R., Zhu, W., Yang, L., Lan, L., Chen, Y., Zhou, J. ... Su, Y. (2013). A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. International Journal of Molecular Medicine, 31, 467-470. https://doi.org/10.3892/ijmm.2012.1223
MLA
Yi, R., Zhu, W., Yang, L., Lan, L., Chen, Y., Zhou, J., Wang, J., Su, Y."A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism". International Journal of Molecular Medicine 31.2 (2013): 467-470.
Chicago
Yi, R., Zhu, W., Yang, L., Lan, L., Chen, Y., Zhou, J., Wang, J., Su, Y."A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism". International Journal of Molecular Medicine 31, no. 2 (2013): 467-470. https://doi.org/10.3892/ijmm.2012.1223
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