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

Yi,Ru-Hai; Zhu,Wen-Bin; Yang,Li-Yong; Lan,Lan; Chen,Yao; Zhou,Jin-Fu; Wang,Jing; Su,Yue-Qing

doi:10.3892/ijmm.2012.1223

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
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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
Published online on: December 24, 2012 https://doi.org/10.3892/ijmm.2012.1223
Pages: 467-470

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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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