What question did this study set out to answer?

This research aims to elucidate the functional impact of ETFDH c.1049G>A variant in a neonate with transient metabolic decompensation.

Splicing defect and functional characterization of the ETFDH c.1049G > A VUS underlying transient MADD: an iPSC and minigene study

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Randomized trial characterizes splicing defect of ETFDH VUS in neonate, indicating significant metabolic implications.

This research aims to elucidate the functional impact of ETFDH c.1049G>A variant in a neonate with transient metabolic decompensation.
Combined induced pluripotent stem cell (iPSC) models and minigene assays to study ETFDH VUS.
Characterized clinical presentation and biochemical profiles over time in a neonate.
Conducted structural modeling on ETFDH to assess impacts of the variant.
c.1049G>A variant leads to predominant exon 9 skipping, causing a 48-amino acid deletion.
ETFDH protein levels were reduced to <10% in patient cells compared to ~40% in heterozygous parents.
The variant's molecular impairment accounts for the neonatal metabolic crisis while allowing recovery under non-stressful conditions.

Dong et al. (2026) studied this question.

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