ABCA3 mutations associated with pediatric interstitial lung disease.

ABSTRACT:

Rationale

ABCA3 is a member of the ATP-binding cassette family of proteins that mediate the translocation of a wide variety of substrates, including lipids, across cellular membranes. Mutations in the gene encoding ABCA3 were recently identified in full-term neonates with fatal surfactant deficiency.

Objective

To test the hypothesis that ABCA3 mutations are not always associated with fatal neonatal lung disease but are a cause of pediatric interstitial lung disease.

Methods

DNA samples were obtained from 195 children with chronic lung disease of unknown etiology. The 30 coding exons of the ABCA3 gene were sequenced in four unrelated children with a referring diagnosis of desquamative interstitial pneumonitis and who were older than 10 years at the time of enrollment.<

SUBMITTER: Bullard JE 

PROVIDER: S-EPMC1403838 | biostudies-literature | 2005 Oct

REPOSITORIES: biostudies-literature