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

Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

Share

COinS
 

URL

https://ir.uiowa.edu/pediatrics_pubs/11