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

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.