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

• Published in: Journal of perinatology Vol. 35; no. 3; pp. 231 - 232
• Main Authors: Jackson, T, Wegner, D J, White, F V, Hamvas, A, Cole, F S, Wambach, J A
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.03.2015; Nature Publishing Group
• Subjects: 45/23; 692/699/1785; A3 gene; Alleles; ATP-Binding Cassette Transporters - genetics; Care and treatment; Carrier proteins; Case studies; Clinical decision making; Decision making; DNA Mutational Analysis; Female; Gene sequencing; Genetic aspects; Health aspects; Humans; Infant; Infant, Newborn; Infants (Newborn); Lung Transplantation; Medicine; Medicine & Public Health; Mutation; Neonates; Pediatric respiratory diseases; Pediatric Surgery; Pediatrics; perinatal-neonatal-case-presentation; Respiratory Distress Syndrome, Newborn - genetics; Respiratory failure; Respiratory insufficiency; Respiratory Insufficiency - genetics; Respiratory insufficiency in children; Term Birth; Transplantation
• ISSN: 0743-8346; 1476-5543
• DOI: 10.1038/jp.2014.236

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.