JCM, Vol. 14, Pages 3704: Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease

Journal of Clinical Medicine doi: 10.3390/jcm14113704

Authors:
Gregorio Serra
Veronica Notarbartolo
Vincenzo Antona
Caterina Cacace
Maria Rita Di Pace
Daniela Mariarosa Morreale
Marco Pensabene
Ettore Piro
Ingrid Anne Mandy Schierz
Maria Sergio
Giuseppina Valenti
Mario Giuffrè
Giovanni Corsello

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.

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Gregorio Serra www.mdpi.com