Surfactant dysfunction and neurodevelopmental delay: a new ABCA3 mutation

ABCA3 is a transmembrane protein found on the limiting membrane of lamellar bodies of alveolar type II cells. Its role is the transport of phospholipids for surfactant production. Over 200 ABCA3 mutations are known to compromise ABCA3 functions and bring to different phenotypes, from neonatal respiratory distress syndrome to childhood or adult diffuse interstitial lung diseases.
We report the case of a19-month-old girl, born at term age, developing respiratory distress six hours after birth. During the first months of life, she developed recurrent long-lasting and oxygen-dependent lower respiratory tract infections, failure to thrive and neurodevelopmental delay. Because a surfactant deficiency washypothesised, the four genes responsible for primary surfactant dysfunction were analysed by Next Generation Sequencing. Two mutations were found in the ABCA3 gene (c.2888A > G and c.4714C > T), one inherited from each parent.
To our knowledge, there is no previous reporting of correlation between ABCA3 mutation and neurodevelopmental delay. Neurological abnormalities are instead related to another surfactant dysfunction, caused by NKX2-1gene mutation. Further cases and accurate genetic diagnosis could be useful to validate this new correlation.

ABCA3 is correlated to surfactant dysfunction and respiratory diseases. We present a case report in which surfactant dysfunction combines to mild neurodevelopmental delay, in a patient carrier of compound heterozygosity never described before on ABCA3 gene (c.2888A>G and c.4714C>T).

: March 23, 2023
Accepted: May 11, 2023
Published: Sept 1, 2023

Table of Contents: Vol. 1, n. 3, September 2023

Remember that the download is free only for personal use. If you want to utilize articles for large distribution, please contact us at