# Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease

## TL;DR

A newborn with severe lung disease was found to have a new genetic mutation in the ABCA3 gene, highlighting the importance of genetic testing for diagnosis and treatment.

## Contribution

Identification of a novel compound heterozygous mutation in the ABCA3 gene associated with neonatal-onset interstitial lung disease.

## Key findings

- A late preterm newborn presented with respiratory distress unresponsive to surfactant.
- NGS revealed a novel compound heterozygous variant in the ABCA3 gene.
- Genetic analysis is critical for targeted treatment and lung transplantation decisions.

## Abstract

Background: Children’s interstitial and diffuse lung diseases, commonly referred to as “chILDs”, include around 200 rare conditions that disrupt normal lung function. They are classified, based on etiopathogenesis, into several subgroups, having a varied and multifaceted clinical presentation depending on the type of genetic mutation present. Methods and Results: We describe the case of a late preterm newborn presenting soon after birth with respiratory distress syndrome poorly responsive to surfactant administration, in whom a targeted gene panel analysis for pulmonary congenital diseases, performed using next-generation sequencing (NGS), revealed a novel compound heterozygous variant of the ATP-Binding-Cassette-Subfamily-A-Member-3 (ABCA3) gene. A review of the literature on the subject completes our work. Conclusions: Molecular genetic analysis has become crucial for a more targeted therapeutic treatment, along with the only current curative treatment option that is lung transplantation.