{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T14:49:04Z","timestamp":1785422944843,"version":"3.56.0"},"reference-count":20,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"4","license":[{"start":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T00:00:00Z","timestamp":1730851200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T00:00:00Z","timestamp":1730851200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["Biomed."],"abstract":"<jats:p>Se presenta el primer caso documentado en Colombia del s\u00edndrome PURA, una enfermedad neurol\u00f3gica rara. Esta afecci\u00f3n resulta de mutaciones del gen PURA, localizado en el cromosoma 5, que producen haploinsuficiencia de la prote\u00edna PUR-\u03b1. Esta prote\u00edna es esencial para el desarrollo temprano del cerebro y la funci\u00f3n neuronal.El paciente, un ni\u00f1o de siete a\u00f1os, comenz\u00f3 a presentar movimientos dist\u00f3nicos de las manos a los 14 d\u00edas de vida. A los seis a\u00f1os, se le diagnostic\u00f3 retraso en el neurodesarrollo, hipoton\u00eda generalizada, episodios frecuentes de apnea y dificultad para la degluci\u00f3n.Aunque inicialmente se consideraron otras condiciones, como la distrofia muscular de Duchenne y la lipofuscinosis ceroidea neuronal, la secuenciaci\u00f3n completa del exoma revel\u00f3 la variante pat\u00f3gena c.692T&gt;C (p.Phe231Ser) en el ex\u00f3n 1 del gen PURA, no registrada previamente en otros pacientes. Este hallazgo permiti\u00f3 un enfoque de manejo integral, con el cual se abordaron las caracter\u00edsticas y alteraciones cl\u00ednicas del paciente.Dado que el s\u00edndrome PURA no figura en la lista de enfermedades hu\u00e9rfanas o raras reconocidas por el Ministerio de Salud y Protecci\u00f3n Social de Colombia, este reporte podr\u00eda influir en su reconocimiento oficial.El caso demuestra la importancia de considerar diagn\u00f3sticos raros en pacientes con s\u00edntomas neurol\u00f3gicos poco comunes y subraya la utilidad de la secuenciaci\u00f3n gen\u00f3mica para el diagn\u00f3stico. Adem\u00e1s, enfatiza la necesidad de colaboraci\u00f3n en el \u00e1rea de la salud para optimizar el cuidado de los pacientes con s\u00edndrome PURA y otras enfermedades semejantes.<\/jats:p>","DOI":"10.7705\/biomedica.7286","type":"journal-article","created":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T10:50:06Z","timestamp":1731063006000},"page":"441-450","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":1,"title":["Haploinsuficiencia de la prote\u00edna PUR-\u03b1 por la mutaci\u00f3n de novo de cambio de sentido c.692T&gt;C (p-Phe231Ser) del gen PURA: primer reporte en Colombia","First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T&gt;C (p.Phe231Ser)"],"prefix":"10.7705","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0055-7164","authenticated-orcid":false,"given":"Sandra Milena","family":"Cer\u00f3n","sequence":"first","affiliation":[{"name":"Facultad de Ciencias de la Salud, Universidad del Cauca, Popay\u00e1n, Colombia"},{"name":"Facultad de Ciencias de la Salud, Universidad del Cauca, Popay\u00e1n, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6646-441X","authenticated-orcid":false,"given":"Daniel Alejandro","family":"P\u00e9rez","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/04fybn584","id-type":"ROR","asserted-by":"publisher"}],"name":"Facultad de Ciencias de la Salud, Universidad del Cauca, Popay\u00e1n, Colombia"},{"id":[{"id":"https:\/\/ror.org\/04fybn584","id-type":"ROR","asserted-by":"publisher"}],"name":"Facultad de Ciencias de la Salud"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0766-0662","authenticated-orcid":false,"given":"Julio Herberth","family":"Monta\u00f1o","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias de la Salud, Universidad del Cauca, Popay\u00e1n, Colombia"},{"name":"Facultad de Ciencias de la Salud, Universidad del Cauca, Popay\u00e1n, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0513-8127","authenticated-orcid":false,"given":"Mar\u00eda Amparo","family":"Acosta","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda, Facultad de Ciencias de la Salud, Universidad del Cauca, Popay\u00e1n, Colombia;\u00a0Hospital Universitario San Jos\u00e9, Popay\u00e1n, Cauca, Colombia"},{"name":"Departamento de Pediatr\u00eda, Facultad de Ciencias de la Salud, Universidad del Cauca, Popay\u00e1n, Colombia;\u00a0Hospital Universitario San Jos\u00e9, Popay\u00e1n, Cauca, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4444","published-online":{"date-parts":[[2024,11,6]]},"reference":[{"key":"140110","doi-asserted-by":"crossref","unstructured":"Trau SP, Pizoli CE. PURA syndrome and myotonia. Pediatr Neurol. 2020;104:62-3. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2019.09.008","DOI":"10.1016\/j.pediatrneurol.2019.09.008"},{"key":"140111","doi-asserted-by":"crossref","unstructured":"Tanaka AJ, Bai R, Cho MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, et al. De novo mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harb Mol Case Stud. 2015;1:a000356. https:\/\/doi.org\/10.1101\/mcs.a000356","DOI":"10.1101\/mcs.a000356"},{"key":"140112","doi-asserted-by":"crossref","unstructured":"Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RP, Reijnders M, et al. PURA-related developmental and epileptic encephalopathy: Phenotypic and genotypic spectrum. Neurol Genet. 2021;7:e613. https:\/\/doi.org\/10.1212\/NXG.0000000000000613","DOI":"10.1212\/NXG.0000000000000613"},{"key":"140113","doi-asserted-by":"crossref","unstructured":"Khalili K, Del Valle L, Muralidharan V, Gault WJ, Darbinian N, Otte J, et al. Pur\u03b1 is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse. Mol Cell Biol. 2003;23:6857-75. https:\/\/doi.org\/10.1128\/mcb.23.19.6857-6875.2003","DOI":"10.1128\/MCB.23.19.6857-6875.2003"},{"key":"140114","unstructured":"Ministerio de Salud y Protecci\u00f3n Social. Resoluci\u00f3n No. 023 de 2023. Por medio de la cual se actualiza el listado de enfermedades hu\u00e9rfanas-raras. Bogot\u00e1, D. C.: Ministerio de Salud y Protecci\u00f3n Social; 2023."},{"key":"140115","unstructured":"Instituto Nacional de Salud. Informe de evento. Enfermedades hu\u00e9rfanas-raras. Bogot\u00e1, D. C.: INS; 2022."},{"key":"140116","doi-asserted-by":"crossref","unstructured":"Bonaglia MC, Zanotta N, Giorda R, D\u2019Angelo G, Zucca C. Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. Mol Cytogenet. 2015;8:89. https:\/\/doi.org\/10.1186\/s13039-015-0193-9","DOI":"10.1186\/s13039-015-0193-9"},{"key":"140117","doi-asserted-by":"crossref","unstructured":"Nogueira M, Melo C, Grangeia A, Magalh\u00e3es T, Soares C, Dias R, et al. PURA syndrome in a child with severe developmental delay: A challenging diagnosis. Rev Neurol. 2022;74:170-3. https:\/\/doi.org\/10.33588\/rn.7405.2021068","DOI":"10.33588\/rn.7405.2021068"},{"key":"140118","unstructured":"Tucker E. PURA 101. Purasyndrome.org. Fecha de consulta: 4 de junio de 2023. Disponible en: https:\/\/purasyndrome.org\/understanding-pura-syndrome\/pura-101\/"},{"key":"140119","unstructured":"Cleveland Clinic. PURA syndrome. Fecha de consulta: 4 de junio de 2023. Disponible en: https:\/\/my.clevelandclinic.org\/health\/diseases\/24151-pura-syndrome"},{"key":"140120","doi-asserted-by":"crossref","unstructured":"Cinquina V, Ciaccio C, Venturini M, Masson R, Ritelli M, Colombi M. Expanding the PURA syndrome phenotype: A child with the recurrent PURA (p.Phe233del) pathogenic variant showing similarities with cutis laxa. Mol Genet Genomic Med. 2021;9:e1562. https:\/\/doi.org\/10.1002\/mgg3.1562","DOI":"10.1002\/mgg3.1562"},{"key":"140121","doi-asserted-by":"crossref","unstructured":"Liu Y, Liu R, Xu T, Zhou Y-X, Zhang S-C. Neonatal PURA syndrome: A case report and literature review. Transl Pediatr. 2021;10:194-203. https:\/\/doi.org\/10.21037\/tp-20-248","DOI":"10.21037\/tp-20-248"},{"key":"140122","doi-asserted-by":"crossref","unstructured":"Molitor L, Bacher S, Burczyk S, Niessing D. The molecular function of PURA and its implications in neurological diseases. Front Genet. 2021;12:638217. https:\/\/doi.org\/10.3389\/fgene.2021.638217","DOI":"10.3389\/fgene.2021.638217"},{"key":"140123","doi-asserted-by":"crossref","unstructured":"Lee BH, Reijnders MRF, Abubakare O, Tuttle E, Lape B, Minks KQ, et al. Expanding the neurodevelopmental phenotype of PURA syndrome. 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