ArticleMolecular genetics & genomic medicine2023
A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay.
Article in Molecular genetics & genomic medicine, 2023. 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, 4 citations in OpenAlex.
- Prenatal Diagnosis of Ververi-Brady Syndrome Associated With a Novel Nonsense QRICH1 Variant: A Case Presentation.Prenatal diagnosis · 2026Article
- A novelFrontiers in neuroscience · 2026Article
- QRICH1 mediates an intracellular checkpoint for CD8Science immunology · 2025Article
- Integration of estimated regional gene expression with neuroimaging and clinical phenotypes at biobank scale.PLoS biology · 2024Article
- A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay.Molecular genetics & genomic medicine · 2023Article
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2 authors at 2 institutions in 1 country.
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Abstract
backgroundQRICH1 encodes the glutamine-rich protein 1, which contains one caspase activation recruitment domain and is likely to be involved in apoptosis and inflammation. However, the function of the QRICH1 gene was largely unknown. Recently, several studies have reported de novo variants in QRICH1, and the variants have been associated with Ververi-Brady syndrome characterized by developmental delay, nonspecific facial dysmorphism, and hypotonia. MATERIALS AND
methodsWhole exome sequencing, clinical examinations, and functional experiments were performed to identify the etiology of our patient.
resultsHere, we added another patient with severe growth retardation, atrial septal defect, and slurred speech. Whole exome sequencing identified a novel truncation variant in the QRICH1 gene (MN_017730.3: c.1788dupC, p.Tyr597Leufs*9). Furthermore, the functional experiments confirmed the effect of genetic variation.
conclusionOur findings expand the QRICH1 variant spectrum in developmental disorders and provide evidence for the application of whole exome sequencing in Ververi-Brady syndrome.
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