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

Zhonghua Er Ke Za Zhi. 2011 Dec;49(12):943-6.
[Article in Chinese]

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.

MeSH terms

  • Child, Preschool
  • Congenital Hypothyroidism / complications
  • Congenital Hypothyroidism / genetics*
  • Dual Oxidases
  • Exons
  • Female
  • Goiter / complications
  • Goiter / congenital
  • Goiter / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation
  • NADPH Oxidases / genetics*

Substances

  • Dual Oxidases
  • NADPH Oxidases
  • DUOX2 protein, human