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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

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

Abstract

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.

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Acknowledgements

The authors would like to thank the National Heart Lung Blood Institute (NHLBI) GO Exome Sequencing Project and its ongoing studies that produced and provided exome variant calls for comparison: the Lung GO Sequencing Project (HL-102923), the WHI Sequencing Project (HL-102924), the Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing Project (HL-102926) and the Heart GO Sequencing Project (HL-103010). This study was supported by National Institutes of Health (K08 HL105891 (JAW), K12 HL089968 (FSC), R01 HL065174 (FSC and AH), R01 HL082747 (FSC and AH), the American Lung Association (JAW), the American Thoracic Society (JAW) and the Saigh Foundation (FSC and AH).

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Correspondence to J A Wambach.

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Jackson, T., Wegner, D., White, F. et al. Respiratory failure in a term infant with cis and trans mutations in ABCA3. J Perinatol 35, 231–232 (2015). https://doi.org/10.1038/jp.2014.236

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