ArticleMolecular genetics and metabolism reports2021
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing.
Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- Exploring RNA therapeutics for urea cycle disorders.Journal of inherited metabolic disease · 2024Review
- Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency.Molecular genetics and metabolism reports · 2022Article
- Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.American journal of medical genetics. Part A · 2022Article
- A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency.JIMD reports · 2022Article
- Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.Frontiers in genetics · 2022Article
- Intronic variants in inborn errors of metabolism: Beyond the exome.Frontiers in genetics · 2022Article
- Characterization and Treatment Responsiveness of Genetically Engineered Ornithine Transcarbamylase-Deficient Pig.Journal of clinical medicine · 2021Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
Pathogenic variants in non-coding regions of genes encoding enzymes or transporters of the urea cycle can lead to urea cycle disorders (UCDs). However, not all commercially available testing platforms interrogate these regions. Here, we used a gene panel based on massively parallel sequencing (MPS) in 10 individuals with clinical or pedigree-based evidence of a proximal UCD but without a molecular confirmation of the diagnosis. We identified causal variant(s) in 5 of 10 individuals, including in 3 of 7 individuals in whom prior molecular testing was unrevealing. We show that a deep-intronic pathogenic variant in
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Registered trials
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