ArticleJournal of medical genetics2014
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
Article in Journal of medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
62 citing papers in PubMed, 2 syntheses or guidelines pooled it, 102 citations in OpenAlex.
- Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options.International journal of molecular sciences · 2023Pooled it
- 5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Article
- Review
- Case Report: Neonatal PURA syndrome caused by a novel c.463C>G (p.Tyr155Ter) mutation.Frontiers in pediatrics · 2026Article
- PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77Journal of medical genetics · 2025Article
- Systematic evaluation of de novo mutation calling tools using whole genome sequencing data.Briefings in bioinformatics · 2025Article
- A Colombian Boy with a Novel de novoMolecular syndromology · 2025Article
- Triple mosaic variants of PURA in a patient with multiple congenital anomalies.Journal of human genetics · 2025Article
- PURA syndrome-a genetic cause of a neurodevelopmental disorder-case report.Frontiers in pediatrics · 2025Article
- NEDRIHF syndrome or PURA syndrome : A rare cause of central hypotonia.Medical journal, Armed Forces India · 2024Article
- First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser)Biomedica : revista del Instituto Nacional de Salud · 2024Article
- InheritedNeurology. Genetics · 2024Article
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- Genetic architecture of childhood speech disorder: a review.Molecular psychiatry · 2024Review
- Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.Genome medicine · 2024Article
- PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association.eLife · 2024Article
- Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo.Frontiers in pediatrics · 2024Article
- Movement Disorders in PURA Syndrome: A Video Case Series.Movement disorders clinical practice · 2023Article
2 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 3 countries.
Funding
Abstract
backgroundDe novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such trios.
methodsThe Deciphering Developmental Disorders study is using whole exome sequencing in family trios to investigate children with severe, sporadic, undiagnosed developmental delay. Three of our patients were ascertained from the first 1133 children to have been investigated through this large-scale study. Case 4 was a phenotypically isolated case recruited into an undiagnosed rare disorders sequencing study.
resultsProtein-altering de novo mutations in PURA were identified in four subjects. They include two different frameshifts, one inframe deletion and one missense mutation. PURA encodes Pur-α, a highly conserved multifunctional protein that has an important role in normal postnatal brain development in animal models. The associated human phenotype of de novo heterozygous mutations in this gene is variable, but moderate to severe neurodevelopmental delay and learning disability are common to all. Neonatal hypotonia, early feeding difficulties and seizures, or 'seizure-like' movements, were also common. Additionally, it is suspected that anterior pituitary dysregulation may be within the spectrum of this disorder. Psychomotor developmental outcomes appear variable between patients, and we propose a possible genotype-phenotype correlation, with disruption of Pur repeat III resulting in a more severe phenotype.
conclusionsThese findings provide definitive evidence for the role of PURA in causing a variable syndrome of neurodevelopmental delay, learning disability, neonatal hypotonia, feeding difficulties, abnormal movements and epilepsy in humans, and help clarify the role of PURA in the previously described 5q31.3 microdeletion phenotype.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.