ArticleJournal of human genetics2020
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy.
Article in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 19 citations in OpenAlex.
- A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.Journal of human genetics · 2023Article
- The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Genes · 2023Review
- Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.Journal of human genetics · 2022Article
- A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemiaFrontiers in molecular neuroscience · 2022Article
- Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.Journal of human genetics · 2021Article
- Alu RNA and their roles in human disease states.RNA biology · 2021Article
- Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.Journal of human genetics · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Novel Compound Missense and Intronic Splicing Mutation inFrontiers in neurology · 2021Article
- POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.Frontiers in cellular neuroscience · 2020Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pseudoexon inclusion caused by deep intronic variants is an important genetic cause for various disorders. Here, we present a case of a hypomyelinating leukodystrophy with developmental delay, intellectual disability, autism spectrum disorder, and hypodontia, which are consistent with autosomal recessive POLR3-related leukodystrophy. Whole-exome sequencing identified only a heterozygous missense variant (c.1451G>A) in POLR3A. To explore possible involvement of a deep intronic variant in another allele, we performed whole-genome sequencing of the patient with variant annotation by SpliceAI, a deep-learning-based splicing prediction tool. A deep intronic variant (c.645 + 312C>T) in POLR3A, which was predicted to cause inclusion of a pseudoexon derived from an Alu element, was identified and confirmed by mRNA analysis. These results clearly showed that whole-genome sequencing, in combination with deep-learning-based annotation tools such as SpliceAI, will bring us further benefits in detecting and evaluating possible pathogenic variants in deep intronic regions.
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