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Updated: Mar 21, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Tools to explore ABCA3 mutations causing interstitial lung disease.

Thomas Wittmann¹, Ulrike Schindlbeck¹, Stefanie Höppner¹

¹Dr. von Hauner Children's Hospital, Ludwig-Maximilians University, German Centre for Lung Research, Munich, 80337, Germany.

Pediatric Pulmonology

|May 14, 2016

Summary

This summary is machine-generated.

Mutations in the ABCA3 gene cause inherited surfactant dysfunction, a form of interstitial lung disease (ILD). This study presents tools to assess ABCA3 mutations, aiding future therapeutic development for ILD.

Keywords:

ABCA3 K1388N interstitial lung disease (ILD)neonatal pulmonary medicine respiratory distress syndrome and ARDS surfactant biology and pathophysiology

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Last Updated: Mar 21, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

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Published on: September 20, 2016

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Published on: April 4, 2018

Area of Science:

Genetics and Molecular Biology
Pulmonology
Biochemistry

Background:

Interstitial lung diseases (ILD) are often of unknown cause.
Mutations in the ATP-binding cassette (ABC), subfamily A, member 3 (ABCA3) gene are a primary cause of inherited surfactant dysfunction disorders, a subset of ILD.
Functional characterization methods for ABCA3 mutations are infrequently reported.

Observation:

The K1388N mutation in ABCA3 was studied in a patient with a fatal ILD outcome.
Molecular tools were employed to characterize the K1388N mutation's functional impact.
In vitro and ex vivo findings were correlated to assess the mutation's effects.

Findings:

The K1388N mutation did not alter ABCA3 protein expression levels.
Altered protein processing and functional impairment of ABCA3 were observed with the K1388N mutation.
Cells expressing the K1388N variant showed reduced dipalmitoyl-phosphatidylcholine (PC 32:0) content and malformed lamellar bodies compared to controls.

Implications:

The study provides a toolkit for categorizing ABCA3 mutations based on their functional impact.
Understanding molecular defects and correlating in vitro/ex vivo data can group mutations for targeted therapies.
This approach may lead to the development of small molecule correctors to restore ABCA3 transporter function in inherited surfactant dysfunction disorders.