Background Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.

Background: The majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop severe respiratory insufficiency within their first year of life and …

Here, we detail the history, clinical phenotype, imaging and their relation to disease causing mutations of a cohort of 44 patients with ABCA3-related interstitial lung disease (ILD) who survived beyond infancy.

Rare or private, biallelic variants in the ABCA3 (ATP-binding cassette transporter A3) gene are the most common monogenic cause of lethal neonatal respiratory failure and childhood interstitial lung disease. Functional characterization of fewer than ...

Methods: We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015. Results: Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies.

2013年6月13日 · We identified deletions in the genes encoding ABCA3 and SP-C that resulted in lung disease. In subject 1, all of ABCA3 exon 12 along with ∼3,500 bases upstream and ∼500 bases downstream were deleted. PCR primers designed to amplify exon 12 located relatively close to the intron–exon boundaries but falling within the deleted region would ...

The lipid transporter, ATP binding cassette, class A3 (ABCA3) is a highly conserved multi-membrane spanning protein that plays a critical role in the regulation of pulmonary surfactant homeostasis. Mutations in ABCA3 have been increasingly recognized as one of the causes of inherited pulmonary diseases.

2006年12月1日 · The findings that the complete absence of ABCA3 function results in severe surfactant deficiency and that some mutations may result in milder lung disease with nonfatal surfactant deficiency in the neonatal period, indicates that ABCA3 may be a candidate gene for more common lung diseases, such as neonatal respiratory distress syndrome (RDS) in ...

2005年10月10日 · The finding of ABCA3 mutations as an autosomal recessive cause of fatal surfactant deficiency supported this hypothesis, indicated an essential role for ABCA3 in surfactant metabolism, and expanded the previously recognized genetic etiologies of …

Biallelic pathogenic ABCA3 variants cause diverse pulmonary phenotypes, including lethal neonatal respiratory distress syndrome, childhood interstitial lung disease, and idiopathic pulmonary fibrosis (1–5). Current therapies, including steroids, hydroxychloroquine, and azithromycin, are nonspecific and have limited efficacy .