ArticleCold Spring Harbor molecular case studies2015
De novo mutations in PURA are associated with hypotonia and developmental delay.
Article in Cold Spring Harbor molecular case studies, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 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
- 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
- Unveiling causal regulatory mechanisms through cell-state parallax.Nature communications · 2025Article
- A Colombian Boy with a Novel de novoMolecular syndromology · 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
- Review
- Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo.Frontiers in pediatrics · 2024Article
- Aromatic Residues Dictate the Transcriptional Repressor and Single-Stranded DNA Binding Activities of Purine-Rich Element Binding Protein B.Biochemistry · 2023Article
- Heterozygous c.175C>T variant inClinical case reports · 2023Article
- Discovery and validation of PURA as a transcription target of 20(S)-protopanaxadiol: Implications for the treatment of cognitive dysfunction.Journal of ginseng research · 2023Article
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.European journal of human genetics : EJHG · 2023Article
- A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.Biomolecules · 2022Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
Abstract
PURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. De novo mutations in PURA were recently reported in 15 individuals with developmental features similar to the 5q31.3 microdeletion syndrome. Here we describe six unrelated children who were identified by clinical whole-exome sequencing (WES) to have novel de novo variants in PURA with a similar phenotype of hypotonia and developmental delay and frequently associated with seizures. The protein Purα (encoded by PURA) is involved in neuronal proliferation, dendrite maturation, and the transport of mRNA to translation sites during neuronal development. Mutations in PURA may alter normal brain development and impair neuronal function, leading to developmental delay and the seizures observed in patients with mutations in PURA.
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Registered trials
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.