ArticleMolecular genetics & genomic medicine2019
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 8 citations in OpenAlex.
- Expanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt.Clinical medicine insights. Pediatrics · 2025Article
- Article
- Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease.Frontiers in molecular biosciences · 2022Article
- Complicated Hereditary Spastic Paraplegia Caused byFrontiers in pediatrics · 2021Article
- Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMEGDHEL is an autosomal recessive syndrome defined as 3-MEthylGlutaconic aciduria (3-MGA) with Deafness, Hepatopathy, Encephalopathy, and Leigh-like syndrome on magnetic resonance imaging, due to mutations in the SERAC1 (Serine Active Site Containing 1) gene, which plays a role in the mitochondrial cardiolipin metabolism.
methodsWe report the case of a young patient who presented with a convulsive encephalopathy, 3-methylglutaconic aciduria, deafness, and bilateral T2 hypersignals of the putamen and the thalami, who passed away at 8 years of age.
resultsAnalysis of nuclear genes using an ampliSeq
conclusionWe showed that the loss of the putative transmembrane domain of SERAC1, due to a novel splice site variant, impairs the protein expression and is responsible for the MEGDHEL syndrome.
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