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PURA-Related Neurodevelopmental Disorders.
Reijnders MRF, Leventer RJ, Lee BH, Baralle D, Selber P, Paciorkowski AR, Hunt D. Reijnders MRF, et al. 2017 Apr 27. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2017 Apr 27. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 28448108 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: PURA-related neurodevelopmental disorders include PURA syndrome, caused by a heterozygous pathogenic sequence variant in PURA, and 5q31.3 deletion syndrome, caused by a genomic 5q31.3 deletion encompassing all or part o …
CLINICAL CHARACTERISTICS: PURA-related neurodevelopmental disorders include PURA syndrome, caused by a heterozyg …
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. ...RESULTS: A cohort of 142 patients was included. Characteristics of the PURA syndrome included neonatal hypotoni …
Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was su …
Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options.
Mroczek M, Iyadurai S. Mroczek M, et al. Int J Mol Sci. 2023 Jan 23;24(3):2260. doi: 10.3390/ijms24032260. Int J Mol Sci. 2023. PMID: 36768582 Free PMC article.
PURA-related neurodevelopmental disorders (PURA-NDDs) are a rare genetic disease caused by pathogenic autosomal dominant variants in the PURA gene or a deletion encompassing the PURA gene. PURA-NDD is clinically characterized by neurod …
PURA-related neurodevelopmental disorders (PURA-NDDs) are a rare genetic disease caused by pathogenic autosomal dominan …
PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.
Taniguchi N, Watanuki K, Nakato D, Takenouchi T, Kosaki K, Koga H. Taniguchi N, et al. J Med Genet. 2025 Feb 26;62(3):191-198. doi: 10.1136/jmg-2024-110379. J Med Genet. 2025. PMID: 39824548
RESULTS: Our analysis included 46 studies encompassing 230 patients with PURA-NDDs (5q31.3 deletion syndrome 18 (8%) and PURA syndrome 212 (92%)). Patients with 5q31.3 deletion syndrome exhibited more congenital defects (50% vs 12%, p<0.0001), respiratory …
RESULTS: Our analysis included 46 studies encompassing 230 patients with PURA-NDDs (5q31.3 deletion syndrome 18 (8%) and PURA …
PURA-Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review.
Falsaperla R, Sortino V, Schinocca MA, Fusto G, Rizzo R, Barberi C, Ruggieri M, Pappalardo XG. Falsaperla R, et al. Genes (Basel). 2024 Jun 27;15(7):848. doi: 10.3390/genes15070848. Genes (Basel). 2024. PMID: 39062627 Free PMC article. Review.
PURA syndrome is a congenital developmental disorder caused by de novo mutations in the PURA gene, which encodes a DNA/RNA-binding protein essential for transcriptional and translational regulation. We present the case of an 11-year-old patient with a de novo …
PURA syndrome is a congenital developmental disorder caused by de novo mutations in the PURA gene, which encodes a DNA/ …
Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions.
Kofoed AWS, Kristiansen SS, Miranda MJ, Rubboli G, Johannesen KM. Kofoed AWS, et al. Clin Genet. 2024 Oct;106(4):386-393. doi: 10.1111/cge.14581. Epub 2024 Jun 24. Clin Genet. 2024. PMID: 38923490 Review.
All patients exhibited hypotonia, feeding difficulties and dysmorphic features, however epilepsy was primarily present in patients with PURA syndrome, that is, groups PURA-SNP and 5q31del + PURA. ...Our findings support the hypothesis of PURA …
All patients exhibited hypotonia, feeding difficulties and dysmorphic features, however epilepsy was primarily present in patients wi …
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
BACKGROUND: De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. OBJECTIVES: To …
BACKGROUND: De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental …
Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.
Liu SN, Chi CS, Lee HF, Tsai CR, Yang YL, Wu PY. Liu SN, et al. Orphanet J Rare Dis. 2025 Jul 25;20(1):376. doi: 10.1186/s13023-025-03908-9. Orphanet J Rare Dis. 2025. PMID: 40713824 Free PMC article.
BACKGROUND: The focus of this study was a comparison of the phenotypical and genotypical differences in PURA syndrome among Asian and non-Asian patients. A retrospective cohort study was performed in a single medical center from January 2014 to May 2025 on patients …
BACKGROUND: The focus of this study was a comparison of the phenotypical and genotypical differences in PURA syndrome among As …
The Molecular Function of PURA and Its Implications in Neurological Diseases.
Molitor L, Bacher S, Burczyk S, Niessing D. Molitor L, et al. Front Genet. 2021 Mar 11;12:638217. doi: 10.3389/fgene.2021.638217. eCollection 2021. Front Genet. 2021. PMID: 33777106 Free PMC article. Review.
One of these genes is PURA, for which in 2014 mutations have been shown to cause the neurodevelopmental disorder PURA syndrome. ...They are compared and put into context with cell biological observations and patient-derived information. In addition to …
One of these genes is PURA, for which in 2014 mutations have been shown to cause the neurodevelopmental disorder PURA …
PURA Syndrome and Myotonia.
Trau SP, Pizoli CE. Trau SP, et al. Pediatr Neurol. 2020 Mar;104:62-63. doi: 10.1016/j.pediatrneurol.2019.09.008. Epub 2019 Oct 19. Pediatr Neurol. 2020. PMID: 31911028 No abstract available.
62 results