Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.

ABSTRACT:

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 disease for NKX2-1 sequencing. Histopathologic results and electron micrographs were assessed, and immunohistochemical analysis for surfactant-associated proteins was performed in a subset of 10 children for whom lung tissue was available.

Results

We identi

SUBMITTER: Hamvas A 

PROVIDER: S-EPMC3760742 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature