Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency Article Swipe
Stefania Martino
,
Pietro D’Addabbo
,
Antonella Turchiano
,
Francesca Clementina Radio
,
Alessandro Bruselles
,
Viviana Cordeddu
,
Cecilia Mancini
,
Alessandro Stella
,
Nicola Laforgia
,
Donatella Capodiferro
,
Simonetta Simonetti
,
Rosanna Bagnulo
,
Orazio Palumbo
,
Flaviana Marzano
,
Ornella Tabaku
,
Antonella Garganese
,
Michele Stasi
,
Marco Tartaglia
,
Graziano Pesole
,
Nicoletta Resta
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3390/ijms25179637
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3390/ijms25179637
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid and amino acid oxidation with an incidence of 1 in 200,000 live births. MADD has three clinical phenotypes: severe neonatal-onset with or without congenital anomalies, and a milder late-onset form. Clinical diagnosis is supported by urinary organic acid and blood acylcarnitine analysis using tandem mass spectrometry in newborn screening programs. MADD is an autosomal recessive trait caused by biallelic mutations in the ETFA, ETFB, and ETFDH genes encoding the alpha and beta subunits of the electron transfer flavoprotein (ETF) and ETF-coenzyme Q oxidoreductase enzymes. Despite significant advancements in sequencing techniques, many patients remain undiagnosed, impacting their access to clinical care and genetic counseling. In this report, we achieved a definitive molecular diagnosis in a newborn by combining whole-genome sequencing (WGS) with RNA sequencing (RNA-seq). Whole-exome sequencing and next-generation gene panels fail to detect variants, possibly affecting splicing, in deep intronic regions. Here, we report a unique deep intronic mutation in intron 1 of the ETFDH gene, c.35-959A>G, in a patient with early-onset lethal MADD, resulting in pseudo-exon inclusion. The identified variant is the third mutation reported in this region, highlighting ETFDH intron 1 vulnerability. It cannot be excluded that these intronic sequence features may be more common in other genes than is currently believed. This study highlights the importance of incorporating RNA analysis into genome-wide testing to reveal the functional consequences of intronic mutations.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/ijms25179637
- OA Status
- gold
- Cited By
- 3
- References
- 27
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4402271762
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4402271762Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/ijms25179637Digital Object Identifier
- Title
-
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase DeficiencyWork title
- Type
-
articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
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2024-09-05Full publication date if available
- Authors
-
Stefania Martino, Pietro D’Addabbo, Antonella Turchiano, Francesca Clementina Radio, Alessandro Bruselles, Viviana Cordeddu, Cecilia Mancini, Alessandro Stella, Nicola Laforgia, Donatella Capodiferro, Simonetta Simonetti, Rosanna Bagnulo, Orazio Palumbo, Flaviana Marzano, Ornella Tabaku, Antonella Garganese, Michele Stasi, Marco Tartaglia, Graziano Pesole, Nicoletta RestaList of authors in order
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https://doi.org/10.3390/ijms25179637Publisher landing page
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YesWhether a free full text is available
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-
goldOpen access status per OpenAlex
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-
https://doi.org/10.3390/ijms25179637Direct OA link when available
- Concepts
-
Genetics, Biology, Exome sequencing, Intron, Newborn screening, RNA splicing, Exon, Exon skipping, Gene, Mutation, RNATop concepts (fields/topics) attached by OpenAlex
- Cited by
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3Total citation count in OpenAlex
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2025: 2, 2024: 1Per-year citation counts (last 5 years)
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27Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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