Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate

J Perinatol. 2013 Feb;33(2):157-60. doi: 10.1038/jp.2012.50.

Abstract

We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1.

Publication types

  • Case Reports

MeSH terms

  • Biopsy, Needle
  • Congenital Hypothyroidism / diagnosis
  • Congenital Hypothyroidism / genetics*
  • Fatal Outcome
  • Female
  • Humans
  • Immunohistochemistry
  • Infant, Newborn
  • Mutation / genetics*
  • Nuclear Proteins / genetics*
  • Rare Diseases
  • Respiratory Distress Syndrome, Newborn / diagnosis
  • Respiratory Distress Syndrome, Newborn / genetics*
  • Term Birth
  • Thyroid Nuclear Factor 1
  • Transcription Factors / genetics*

Substances

  • Nuclear Proteins
  • Thyroid Nuclear Factor 1
  • Transcription Factors