title: [DUOX2 gene mutation in patients with congenital goiter with hypothyroidism].
abstract: OBJECTIVE
  To identify DUOX2 gene mutation in patients with congenital goiter with hypothyroidism.
  
  
  METHODS
  Five patients who had transit congenital hypothyroidism with goiter were enrolled. The exons of DUOX2 gene were amplified and sequenced.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Clinical Laboratory, Yantai Yantaishan Hospital, Yantai 264008, China.
authors.forename: Zhi-ping
authors.initials: ZP
authors.lastname: Lü
authors.forename: Gui-hua
authors.initials: GH
authors.lastname: Li
authors.forename: Wen-jie
authors.initials: WJ
authors.lastname: Li
authors.forename: Shi-guo
authors.initials: SG
authors.lastname: Liu
mesh_terms: D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000150:complications / Q000235:genetics*; D000074623:Dual Oxidases; D005091:Exons; D005260:Female; D006042:Goiter / Q000150:complications / Q000151:congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D019255:NADPH Oxidases / Q000235:genetics*
chemical_list: D000074623:Dual Oxidases; D019255:NADPH Oxidases; C431515:DUOX2 protein, human