title: [Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism].
abstract: OBJECTIVE
  To investigate the characteristics of DUOXA2 gene mutation and the genotype-phenotype relationship in children with congenital hypothyroidism (CH) in Guangzhou, China.
  
  
  METHODS
  A total of 20 CH patients with suspected thyroid dyshormonogenesis who had no DUOX2 gene mutation were enrolled. These patients who were born between 2011 and 2012 were screened and diagnosed with CH in the Guangzhou Newborn Screening Center. PCR and direct sequencing were used to analyze DUOXA2 gene mutation.
  
  
  RESULTS
  Among the 20 patients, 2 had p.Y246X/p.Y246X homozygous mutation; 4 had monoallelic heterozygous mutation, among whom 2 carried the known pathogenic mutation c.413-414insA, 1 carried p.Y246X, and 1 carried a novel mutation, p.G79R. Reevaluation was performed at the age of 2-3 years, and the results showed that the two patients with p.Y246X/p.Y246X homozygous mutation were manifested as transient and mild permanent CH, respectively. Among the four patients with monoallelic heterozygous mutation, the one who carried p.Y246X mutation was manifested as typical permanent CH, and the other three were manifested as transient CH.
  
  
  CONCLUSIONS
  DUOXA2 gene mutation is a common molecular pathogenic basis for CH children with suspected thyroid dyshormonogenesis in Guangzhou, and most of them are manifested as transient CH. There is no association between DUOXA2 genotypes and phenotypes. The novel mutation p.G79R is probably a pathogenic mutation.
authors.affiliation: Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou 510180, China. xxhuang321@163.com.
authors.forename: Min-Yi
authors.initials: MY
authors.lastname: Tan
authors.forename: Yong-Lan
authors.initials: YL
authors.lastname: Huang
authors.forename: Bei
authors.initials: B
authors.lastname: Li
authors.forename: Xiang
authors.initials: X
authors.lastname: Jiang
authors.forename: Qian-Yu
authors.initials: QY
authors.lastname: Chen
authors.forename: Xue-Fang
authors.initials: XF
authors.lastname: Jia
authors.forename: Cheng-Fang
authors.initials: CF
authors.lastname: Tang
authors.forename: Li
authors.initials: L
authors.lastname: Liu
mesh_terms: D003409:Congenital Hypothyroidism / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: C513411:DUOXA2 protein, human; D008565:Membrane Proteins