A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy.

ABSTRACT:

Background

Neuroendocrine cell hyperplasia of infancy (NEHI) is a childhood diffuse lung disease of unknown etiology. We investigated the mechanism for lung disease in a subject whose clinical, imaging, and lung biopsy specimen findings were consistent with NEHI; the subject's extended family and eight other unrelated patients with NEHI were also investigated.

Methods

The proband's lung biopsy specimen (at age 7 months) and serial CT scans were diagnostic of NEHI. Her mother, an aunt, an uncle, and two first cousins had failure to thrive in infancy and chronic respiratory symptoms that improved with age. Genes associated with autosomal-dominant forms of childhood interstitial lung disease were sequenced.

Results

A heterozygous NKX2.1 mutation was identified in the pro

SUBMITTER: Young LR 

PROVIDER: S-EPMC3787915 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature