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[DUOX2 gene mutation in patients with congenital goiter with hypothyroidism]

Zhi-ping Lü¹, Gui-hua Li, Wen-jie Li

¹Department of Clinical Laboratory, Yantai Yantaishan Hospital, Yantai 264008, China.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics

|February 17, 2012

Abstract

Objective:

To identify DUOX2 gene mutation in patients with congenital goiter with hypothyroidism.

Method:

Five patients who had transit congenital hypothyroidism with goiter were enrolled. The exons of DUOX2 gene were amplified and sequenced.

Result:

A heterozygous missense mutation C1329T in the exon 10 of the DUOX2 gene was found in one patient, predicted to result in a Tryptophan to Arginine substitution at codon 376. However no mutation was detected in the other patients.

Conclusion:

p.Arg376Trp mutation in DUOX2 was found in newborns of congenital hypothyroidism. The alleles frequency of this mutation may contribute to the function loss of congenital hypothyroidism.

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