Title
Surfactant deficiency syndrome in an infant with a C-terminal frame shift in ABCA3: A case report
Document Type
Article
Publication Date
5-1-2018
NLM Title Abbreviation
Pediatr Pulmonol
Journal/Book/Conference Title
Pediatric pulmonology
PubMed ID
29566461
DOI of Published Version
10.1002/ppul.23994
Start Page
12
End Page
14
Abstract
Deficiency in ATP binding cassette A3 (ABCA3) causes neonatal respiratory distress, hypoxemic respiratory failure, and interstitial lung disease. ABCA3 transports phospholipids into the lamellar bodies of type II alveolar cells, a critical step in alveolar surfactant production. We report a term infant with ABCA3 surfactant deficiency syndrome with the E292V (c.875A>T; p.Glu292Val) mutation in trans with a novel C-terminal frame shift mutation (c.4938delC; p.Met1647fs). This mutation removes the final 58 amino acids and substitutes 33 incorrect amino acids. The frame shift spares membrane spanning and nucleotide binding domains, but disrupts a highly conserved C-terminal domain, which includes sequence motifs necessary for the function of human paralogs ABCA1, ABCA4, and the bacterial homolog DrrA. This observation suggests the C-terminal domain is also required for normal function of ABCA3.
Keywords
pediatrics, ABCA3, childhood, genetics, interstitial lung disease (ILD), surfactant biology and pathophysiology
Journal Article Version
Version of Record
Published Article/Book Citation
Pediatr Pulmonol. 2018 May; 53(5): E12–E14. Published online 2018 Mar 22. https://doi.org/10.1002/ppul.23994
Rights
© 2018 The Authors.
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.
Included in
Circulatory and Respiratory Physiology Commons, Genetic Phenomena Commons, Medical Genetics Commons, Pediatrics Commons
URL
https://ir.uiowa.edu/pediatrics_pubs/11