Respiratory failure in a term infant with cis and trans mutations in ABCA3

Abstract

A full-term female neonate presented with persistent respiratory failure and radiologic studies consistent with surfactant deficiency. Sequencing of the ATP-binding cassette transporter A3 gene (ABCA3) revealed three mutations: R280C, V1399M and Q1589X. The infant underwent bilateral lung transplantation at 9 months of age and is alive at 3 years of age. Parental sequencing demonstrated that two of the mutations (R280C and Q1589X) were oriented on the same allele (cis), whereas V1399M was oriented on the opposite allele (trans). As more than one mutation in ABCA3 can be present on the same allele, parental studies are needed to determine allelic orientation to inform clinical decision making and future reproductive counseling.

Conflict of interest statement

CONFLICT OF INTEREST: The authors declare no conflict of interest.

Figures

Figure

Electron microscopy image of alveolar type II cell demonstrating small, densely wound lamellar bodies and dense body (black arrows). Some relatively normal-appearing small lamellar bodies are also observed (white arrows).