<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0120-4157</journal-id>
<journal-title><![CDATA[Biomédica]]></journal-title>
<abbrev-journal-title><![CDATA[Biomed.]]></abbrev-journal-title>
<issn>0120-4157</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-41572024000400441</article-id>
<article-id pub-id-type="doi">10.7705/biomedica.7286</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Haploinsuficiencia de la proteína PUR-a por la mutación de novo de cambio de sentido c.692T&gt;C (p-Phe231Ser) del gen PURA: primer reporte en Colombia]]></article-title>
<article-title xml:lang="en"><![CDATA[First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T&gt;C (p.Phe231Ser)]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cerón]]></surname>
<given-names><![CDATA[Sandra Milena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pérez]]></surname>
<given-names><![CDATA[Daniel Alejandro]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Montaño]]></surname>
<given-names><![CDATA[Julio Herberth]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Acosta]]></surname>
<given-names><![CDATA[María Amparo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Cauca Facultad de Ciencias de la Salud ]]></institution>
<addr-line><![CDATA[Popayán ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad del Cauca Facultad de Ciencias de la Salud Departamento de Pediatría]]></institution>
<addr-line><![CDATA[Popayán ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Universitario San José  ]]></institution>
<addr-line><![CDATA[Popayán Cauca]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2024</year>
</pub-date>
<volume>44</volume>
<numero>4</numero>
<fpage>441</fpage>
<lpage>450</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-41572024000400441&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-41572024000400441&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-41572024000400441&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen Se presenta el primer caso documentado en Colombia del síndrome PURA, una enfermedad neurológica rara. Esta afección resulta de mutaciones del gen PURA, localizado en el cromosoma 5, que producen haploinsuficiencia de la proteína PUR-a. Esta proteína es esencial para el desarrollo temprano del cerebro y la función neuronal. El paciente, un niño de siete años, comenzó a presentar movimientos distónicos de las manos a los 14 días de vida. A los seis años, se le diagnosticó retraso en el neurodesarrollo, hipotonía generalizada, episodios frecuentes de apnea y dificultad para la deglución. Aunque inicialmente se consideraron otras condiciones, como la distrofia muscular de Duchenne y la lipofuscinosis ceroidea neuronal, la secuenciación completa del exoma reveló la variante patógena c.692T&gt;C (p.Phe231Ser) en el exón 1 del gen PURA, no registrada previamente en otros pacientes. Este hallazgo permitió un enfoque de manejo integral, con el cual se abordaron las características y alteraciones clínicas del paciente. Dado que el síndrome PURA no figura en la lista de enfermedades huérfanas o raras reconocidas por el Ministerio de Salud y Protección Social de Colombia, este reporte podría influir en su reconocimiento oficial. El caso demuestra la importancia de considerar diagnósticos raros en pacientes con síntomas neurológicos poco comunes y subraya la utilidad de la secuenciación genómica para el diagnóstico. Además, enfatiza la necesidad de colaboración en el área de la salud para optimizar el cuidado de los pacientes con síndrome PURA y otras enfermedades semejantes.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract We present the first documented case of PURA syndrome in Colombia. This rare neurological disease results from mutations in the PURA gene located on chromosome 5, leading to haploinsufficiency of the PUR-a protein. This protein is essential for early brain development and neuronal function. The patient, a seven-years-old boy, started showing dystonic hand movements at 14 days of age; at six, he had neurodevelopmental delay, generalized hypotonia, frequent episodes of apnea, and swallowing difficulties. Although other conditions were initially considered, such as Duchenne muscular dystrophy and neuronal ceroid lipofuscinosis, a whole exome sequencing revealed the pathogenic variant c.692T&gt;C (p.Phe231Ser) in the exon 1 of the PURA gene, not previously reported in other patients. With this finding, we adopted a comprehensive management approach addressing the patient's characteristics and alterations. Since the PURA syndrome is not on the list of orphan/rare diseases recognized by the Colombian Ministerio de Salud y Protección Social, we hope our report will contribute to its official recognition. The case shows the importance of considering rare diagnoses in patients with uncommon neurological symptoms, underlining the usefulness of genomic sequencing in diagnosis and the need for collaboration to optimize healthcare for patients with PURA syndrome and similar diseases.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[enfermedades del sistema nervioso]]></kwd>
<kwd lng="es"><![CDATA[trastornos del neurodesarrollo]]></kwd>
<kwd lng="es"><![CDATA[niño]]></kwd>
<kwd lng="en"><![CDATA[Nervous system diseases]]></kwd>
<kwd lng="en"><![CDATA[neurodevelopmental disorders]]></kwd>
<kwd lng="en"><![CDATA[child]]></kwd>
</kwd-group>
</article-meta>
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