Background Mutations in the gene encoding thyroid transcription factor, NKX2-1, result in
neurologic abnormalities, hypothyroidism, and neonatal respiratory distress syndrome
(RDS) that together are known as the brain-thyroid-lung syndrome. To characterize the
spectrum of associated pulmonary phenotypes, we identified individuals with mutations in
NKX2-1 whose primary manifestation was respiratory disease. Methods Retrospective and
prospective approaches identified infants and children with unexplained diffuse lung …