Thyroid Transcription Factor 1 (TTF-1)

Mutations in the thyroid transcription factor 1 gene (NKX2.1) on chromosome 14 may cause respiratory disease, an underactive thyroid gland, and/or neurologic problems. Individuals with respiratory problems due to these mutations may present at birth with respiratory distress or later in childhood with more chronic disease. It is an autosomal dominant condition; most of the mutations arise spontaneously and are not inherited.