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May 31, 2026Orphanet Journal of Rare DiseasesOpen Access

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

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Authors

RDRui DongXWXiaochen WangHZHaitao Zhang

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Overview

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

Key Points

  • 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.

Cite This Study

Dong et al. (2026) studied this question.

synapsesocial.com/papers/6a1bd2675783ba022b6fded3https://doi.org/10.1186/s13023-026-04407-1
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genotype–Phenotype Correlation of <scp>ETF</scp> Dehydrogenase Gene‐Related Multiple Acyl‐<scp>CoA</scp> Dehydrogenation Deficiency in Chinese Patients2025 · 1 citations
  2. 2Response of an Infant With Presumed Multiple Acyl‐ <scp>CoA</scp> Dehydrogenase Deficiency ( <scp>MADD</scp> ) to Ketone Supplementation2026
  3. 3Genotype-environment interaction drives the onset of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency in carriers of single heterozygous ETFDH variants2026
  4. 4PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review2025
  5. 5Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency2024 · 3 citations