title: NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.
abstract: BACKGROUND
  A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders. We describe here the case of an infant with a novel mutation of the NKX2.1 gene characterized by mild clinical presentation. Aim of the study was to elucidate the genotype-phenotype correlation in our patient.
  
  
  METHODS
  We performed genetic analysis of the NKX2.1 gene in an infant with no neonatal respiratory distress and near-normal results at neonatal screening test for congenital hypothyroidism, choreoathetosis, ataxia and delayed independent walking.
  
  
  RESULTS
  A novel mutation of the NKX2.1 gene has been identified, that is responsible for a mild framework of congenital hypothyroidism and neurological symptoms.
  
  
  CONCLUSIONS
  The frequency of congenital hypothyroidism cases associated with NKX2.1 mutations is expected to be higher in a subgroup of patients, selected according to the neurological presentation. In these patients the analysis of NKX2.1 mutational status is recommended.
authors.affiliation: Department of Medical and Surgical Sciences, Pediatric Unit, University of Bologna, Bologna, Italy. saramonti1984@gmail.com.
authors.forename: Sara
authors.initials: S
authors.lastname: Monti
authors.affiliation: Department of Medical and Surgical Sciences, Pediatric Unit, University of Bologna, Bologna, Italy. annalisa.nicoletti@unibo.it.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Nicoletti
authors.affiliation: Department of Medical and Surgical Sciences, Pediatric Unit, University of Bologna, Bologna, Italy. antonella.cantasano@gmail.com.
authors.forename: Antonella
authors.initials: A
authors.lastname: Cantasano
authors.affiliation: Institute for Experimental Pediatric Endocrinology, Charité University Medicine, Berlin, Germany. Heiko.Krude@charite.de.
authors.forename: Heiko
authors.initials: H
authors.lastname: Krude
authors.affiliation: Department of Medical and Surgical Sciences, Pediatric Unit, University of Bologna, Bologna, Italy. alessandra.cassio@unibo.it.|Policlinico S.Orsola- Malpighi, U.O. Pediatria, Via Massarenti 9, 40138, Bologna, BO, Italy. alessandra.cassio@unibo.it.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Cassio
mesh_terms: D003409:Congenital Hypothyroidism / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D013961:Thyroid Gland; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D009687:Nuclear Proteins; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors; D004247:DNA