Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure

J Pediatr. 2000 Aug;137(2):272-6. doi: 10.1067/mpd.2000.107111.


Thyroid transcription factor-1 encoded by the NKX2.1 gene is a candidate regulator of thyroid and lung morphogenesis and function in humans. We report 2 female siblings with congenital thyroid dysfunction and recurrent acute respiratory distress carrying a heterozygous deletion of chromosome 14q12-13.3, resulting in haploinsufficiency for the NKX2.1 gene. This observation further supports a physiologic role for thyroid transcription factor-1 in early human thyroid and pulmonary function.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 14*
  • Congenital Hypothyroidism*
  • Female
  • Gene Deletion*
  • Heterozygote
  • Humans
  • Hypothyroidism / genetics*
  • Infant, Newborn
  • Nuclear Family
  • Receptors, Thyroid Hormone / genetics*
  • Respiratory Insufficiency / genetics*
  • Thyrotropin / blood


  • Receptors, Thyroid Hormone
  • Thyrotropin