An intronic ABCA3 mutation that is responsible for respiratory disease.

ABSTRACT:

Introduction

Member A3 of the ATP-binding cassette family of transporters (ABCA3) is essential for surfactant metabolism. Nonsense, missense, frameshift, and splice-site mutations in the ABCA3 gene (ABCA3) have been reported as causes of neonatal respiratory failure (NRF) and interstitial lung disease. We tested the hypothesis that mutations in noncoding regions of ABCA3 may cause lung disease.

Methods

ABCA3-specific cDNA was generated and sequenced from frozen lung tissue from a child with fatal lung disease with only one identified ABCA3 mutation. ABCA3 was sequenced from genomic DNA prepared from blood samples obtained from the proband, parents, and other children with NRF.

Results

ABCA3 cDNA from the proband contained sequences derived from intron 25 that would be

SUBMITTER: Agrawal A 

PROVIDER: S-EPMC3607324 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature