title: The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis.
abstract: OBJECTIVE
  To search for genetic alteration in NKX2.5 gene in patients presenting both congenital heart disease (CHD) and TD.
  
  
  METHODS
  Individual phenotypes were carefully analyzed in 86 children with thyroid dysgenesis (TD) using thyroid function tests, scintigraphy, ultrasound and echocardiography. DNA was extracted and NKX2.5 gene coding region was amplified by polymerase chain reaction (PCR) and sequenced.
  
  
  RESULTS
  CHD were found in 8.1% of patients with TD. The mutation screening revealed two known polymorphisms in patients with isolated TD or TD associated with CHD. None of them are predicted to result in codon change in conserved domain. The c.63A>G polymorphism was detected in 54/86 patients (49 with isolated TD and 5 with TD combined with CHD). There was a significant association of c.63A>G polymorphism with hypoplasia (p < 0.036). The c.541G>A polymorphism was observed in only one patient with isolated thyroid hypoplasia.
  
  
  CONCLUSIONS
  NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia.
authors.affiliation: Laboratório de Estudo da Tireoide, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Taise Lima de Oliveira
authors.initials: TL
authors.lastname: Cerqueira
authors.affiliation: Laboratório de Estudo da Tireoide, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Yanne
authors.initials: Y
authors.lastname: Ramos
authors.affiliation: Laboratório de Estudo da Tireoide, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Giorgia
authors.initials: G
authors.lastname: Strappa
authors.affiliation: Laboratório de Estudo da Tireoide, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Daniel San
authors.initials: DS
authors.lastname: Martin
authors.affiliation: Laboratório de Estudo da Tireoide, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Mariana
authors.initials: M
authors.lastname: Jesus
authors.affiliation: Laboratório de Estudo da Tireoide, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Jailciele
authors.initials: J
authors.lastname: Gonzaga
authors.affiliation: Laboratório de Estudo da Tireoide, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Paulo
authors.initials: P
authors.lastname: Ferreira
authors.affiliation: Hospital Santa Izabel, Escola Bahiana de Medicina e Saúde Pública, Salvador, BA, Brasil.
authors.forename: Anabel
authors.initials: A
authors.lastname: Costa
authors.affiliation: Salvador, Salvador, BA, Brasil.
authors.forename: Vladimir
authors.initials: V
authors.lastname: Fernandes
authors.affiliation: Associação de Pais e Amigos dos Excepcionais, Salvador, BA, Brasil.
authors.forename: Tatiana
authors.initials: T
authors.lastname: Amorim
authors.affiliation: Escola Bahiana de Medicina e Saúde Pública, Salvador, BA, Brasil.
authors.forename: Ana Marice
authors.initials: AM
authors.lastname: Ladeia
authors.affiliation: Laboratório de Estudo da Tireoide, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: Helton
authors.initials: H
authors.lastname: Ramos
mesh_terms: D005260:Female; D056726:Genetic Association Studies; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D050033:Thyroid Dysgenesis / Q000235:genetics*; D013960:Thyroid Function Tests; D013961:Thyroid Gland / Q000002:abnormalities*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D014157:Transcription Factors