title: Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis.
abstract: OBJECTIVE
  Congenital hypothyroidism (CH) is a frequent neonatal endocrine disease with an incidence of about 1:2500 worldwide. Although thyroid dysgenesis (TD) is the most frequent cause of CH cases, its pathogenesis remains unclear. The aim of this study was to screen the hematopoietically-expressedhomeobox gene (HHEX) mutations in Chinese children with TD.
  
  
  METHODS
  Genomic deoxyribonucleic acid was extracted from peripheral blood leukocytes in 234 TD patients from Shandong Province. Mutations in all exons and nearby introns of HHEX were analyzed by direct sequencing after polymerase chain reaction amplification.
  
  
  RESULTS
  Sequencing analysis of HHEX indicated that no causative mutations were present in the coding regionof the TD patients. However, a genetic variant (IVS2+ 127 G/T, 10.26%) was observed in the intron 2 in HHEX.
  
  
  CONCLUSIONS
  Our results indicate that the frequency of HHEX mutation is very low and may not be the main causative factor in Chinese TD patients. However, these results need to be replicated using larger datasets collected from different populations.
authors.forename: Shiguo
authors.initials: S
authors.lastname: Liu
authors.forename: Jian
authors.initials: J
authors.lastname: Chai
authors.forename: Guohua
authors.initials: G
authors.lastname: Zheng
authors.forename: Huichao
authors.initials: H
authors.lastname: Li
authors.affiliation: Linyi People's Hospital, Department of Clinical Laboratory, Shandong, China, E-mail: ldg1851@163.com.
authors.forename: Deguo
authors.initials: D
authors.lastname: Lu
authors.forename: Yinlin
authors.initials: Y
authors.lastname: Ge
mesh_terms: D015415:Biomarkers / Q000032:analysis*; D003409:Congenital Hypothyroidism / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008403:Mass Screening; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011379:Prognosis; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D015415:Biomarkers; C078492:HHEX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors