DUOX2 gene mutation in patients with congenital goiter with hypothyroidism / 中华儿科杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify DUOX2 gene mutation in patients with congenital goiter with hypothyroidism.</p><p><b>METHOD</b>Five patients who had transit congenital hypothyroidism with goiter were enrolled. The exons of DUOX2 gene were amplified and sequenced.</p><p><b>RESULT</b>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.</p><p><b>CONCLUSION</b>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.</p>