An intronic ABCA3 mutation that is responsible for respiratory disease.

Pediatric Research
Amit AgrawalLawrence M Nogee

Abstract

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. 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. ABCA3 cDNA from the proband contained sequences derived from intron 25 that would be predicted to alter the structure and function of the ABCA3 protein. Genomic DNA sequencing revealed a heterozygous C>T transition in intron 25 trans to the known mutation, creating a new donor splice site. Seven additional infants with an ABCA3-deficient phenotype and inconclusive genetic findings had this same variant, which was not found in 2,132 control chromosomes. These findings support that this variant is a disease-causing mutation that may account for additional cases of ABCA3 deficie...Continue Reading

Associated Clinical Trials

Apr 12, 2001·F. Sessions Cole, MD
Jan 23, 2009·F. Sessions Cole, MD

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Citations

Nov 21, 2012·Pediatrics·Jennifer A WambachAaron Hamvas
Aug 3, 2013·American Journal of Respiratory and Critical Care Medicine·Geoffrey KurlandUNKNOWN American Thoracic Society Committee on Childhood Interstitial Lung Disease (chILD) and the chILD Research Network
May 30, 2014·American Journal of Respiratory and Critical Care Medicine·Jennifer A WambachLawrence M Nogee
Feb 28, 2013·European Journal of Pediatrics·Hiroshi KitazawaShigeo Kure
Nov 27, 2015·Italian Journal of Pediatrics·Silvia MontellaFrancesca Santamaria
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Aug 29, 2016·BMC Medical Genomics·Chen DuDavid R Adams
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Jul 16, 2016·Archives of Disease in Childhood·Atul Gupta, Sean Lee Zheng
Oct 30, 2015·Clinical Medicine Insights. Circulatory, Respiratory and Pulmonary Medicine·Hiroshi Kitazawa, Shigeo Kure
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Methods Mentioned

BETA
PCR
reverse-transcription PCR
electrophoresis
electron microscopy
biopsy

Software Mentioned

Sequencher

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