title: [DUOX2 mutations in children with congenital hypothyroidism].
abstract: OBJECTIVE
  To study the features of DUOX2 mutations and genotype-phenotype relationship in children with congenital hypothyroidism (CH), in order to provide evidence for gene diagnosis and gene treatment of CH.
  
  
  METHODS
  Blood samples were collected from 10 CH children with thyromegaly. Genomic DNA was extracted from peripheral blood leukocytes. All exons of DUOX2 gene were analyzed using PCR and direct sequencing.
  
  
  RESULTS
  G3632A mutation in the exon 28 of DUOX2 that may result in arginine to histidine substitution at codon 1211 was found in one patient. T2033C mutation in the exon 17 of DUOX2 that may result in histidine to arginine substitution at codon 678 was found in three patients. They were all heterozygous mutations.
  
  
  CONCLUSIONS
  Heterozygous mutations in DUOX2 may affect protein function and cause CH. The relationship between DUOX2 genotypes and clinical phenotypes is unclear and needs further studies.
authors.affiliation: Department of Biochemistry and Molecular Biology, Qingdao University, Qingdao, Shandong 266021, China. geyinlin@126.com.
authors.forename: Jian
authors.initials: J
authors.lastname: Chai
authors.forename: Xiao-Long
authors.initials: XL
authors.lastname: Yang
authors.forename: Ming-Zhen
authors.initials: MZ
authors.lastname: Guo
authors.forename: Lu
authors.initials: L
authors.lastname: Liu
authors.forename: Shi-Guo
authors.initials: SG
authors.lastname: Liu
authors.forename: Sheng-Li
authors.initials: SL
authors.lastname: Yan
authors.forename: Yin-Lin
authors.initials: YL
authors.lastname: Ge
mesh_terms: D002648:Child; D002675:Child, Preschool; D019295:Computational Biology; D003409:Congenital Hypothyroidism / Q000235:genetics*; D000074623:Dual Oxidases; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D019255:NADPH Oxidases / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D000074623:Dual Oxidases; D019255:NADPH Oxidases; C431515:DUOX2 protein, human