A New ABCA3 Gene Mutation Presenting as Early Neonatal Surfactant Deficiency

Mutations of the ATP-binding cassette transporter A3 gene (ABCA3) causing the dysfunction of surfactant proteins are a well-established cause of interstitial lung disease. The clinical presentation is variable ranging from neonatal early death to mild forms of interstitial lung disease in the adult. We present the case of a newborn with early neonatal respiratory distress. The clinical and radiologic findings were compatible with interstitial lung disease. The disease progressed toward severe respiratory insufficiency and the patient died at the age of 3 years. A variant not yet described in the literature was found in the ABCA3 gene (c.4442C>T), in apparent homozygosity. Parental genetic studies revealed that only the father was a carrier for this variant. The quantitative study of the ABCA3 gene in our patient revealed a deletion affecting exon 32 and possibly 29. This report describes the phenotype of a new ABCA3 variant causing surfactant deficiency while also highlighting the importance of considering gene deletions in case of unconfirmed homozygosity.