title: Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism.
abstract: OBJECTIVE
  Dyshormonogenetic congenital hypothyroidism (CH) was reported to be associated with a mutation in the sodium iodide symporter (NIS) gene. The present study was undertaken in the Guangxi Zhuang Autonomous Region of China, to determine the nature and frequency of NIS gene mutations among patients with CH due to dyshormonogenesis.
  
  
  METHODS
  Blood samples were collected from 105 dyshormonogenetic CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the NIS gene together with their exon-intron boundaries were screened by next-generation sequencing.
  
  
  RESULTS
  Two silent variations (T221T and T557T) and one missense variation (M435L), as well as two polymorphisms (rs200587561 and rs117626343) were found.
  
  
  CONCLUSIONS
  Our results indicate that the NIS mutation rate is very low in the Guangxi Zhuang Autonomous Region, China, and it is necessary to study mutations of other genes that have major effects on thyroid dyshormonogenesis and have not as yet been studied in this population.
authors.affiliation: Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region.
authors.forename: Chunyun
authors.initials: C
authors.lastname: Fu
authors.affiliation: Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region.
authors.forename: Shaoke
authors.initials: S
authors.lastname: Chen
authors.affiliation: Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region.
authors.forename: Rongyu
authors.initials: R
authors.lastname: Chen
authors.affiliation: Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region.
authors.forename: Xin
authors.initials: X
authors.lastname: Fan
authors.affiliation: Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region.
authors.forename: Jingsi
authors.initials: J
authors.lastname: Luo
authors.affiliation: Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region.
authors.forename: Chuan
authors.initials: C
authors.lastname: Li
authors.affiliation: Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region.
authors.forename: Jiale
authors.initials: J
authors.lastname: Qian
mesh_terms: D002681:China; D015331:Cohort Studies; D003409:Congenital Hypothyroidism / Q000235:genetics*; D004247:DNA; D005091:Exons / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D020539:Sequence Analysis, Protein / Q000379:methods; D027981:Symporters / Q000737:chemistry / Q000235:genetics*; D000099209:Sodium-Iodide Symporters
chemical_list: D004247:DNA; D027981:Symporters; D000099209:Sodium-Iodide Symporters