<?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>0120-8748</journal-id>
<journal-title><![CDATA[Acta Neurológica Colombiana]]></journal-title>
<abbrev-journal-title><![CDATA[Acta Neurol Colomb.]]></abbrev-journal-title>
<issn>0120-8748</issn>
<publisher>
<publisher-name><![CDATA[Asociación Colombiana de Neurología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-87482020000200093</article-id>
<article-id pub-id-type="doi">10.22379/24224022284</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Neuroibromatosis tipo l: relación genotipo-fenotipo]]></article-title>
<article-title xml:lang="en"><![CDATA[Type 1 neurofibromatosis: genotype-phenotype relationship]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gómez-López]]></surname>
<given-names><![CDATA[Mariana Teresa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Botero-Meneses]]></surname>
<given-names><![CDATA[Juan Sebastián]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Tierradentro-García]]></surname>
<given-names><![CDATA[Luis Octavio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vélez-van-Meerbeke]]></surname>
<given-names><![CDATA[Alberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Rosario Facultad de Medicina y Ciencias de la Salud Grupo de Investigación en Neurociencia (Neuros)]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<volume>36</volume>
<numero>2</numero>
<fpage>93</fpage>
<lpage>99</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-87482020000200093&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-87482020000200093&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-87482020000200093&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  INTRODUCCIÓN:  La neurofibromatosis (enfermedad de von Recklinghausen) es una enfermedad autosómica dominante que presenta principalmente manifestaciones cutáneas y neurológicas. El objetivo es describir actualmente si existe o no relación entre las mutaciones encontradas en los pacientes con neurofibromatosis tipo 1 y las características clínicas que presentan.  MÉTODOS: Se realizó un artículo de revisión narrativa para evaluar la relación con el genotipo y fenotipo de los pacientes con neurofibromatosis tipo 1. Se revisaron las bases de datos PubMed, Embase y Lilacs. Se utilizaron los siguientes términos Mesh: Neurofibromatosis, neurofibromatosis tipo 1, genes, genotipo, fenotipo, mutaciones, secuenciación de exoma. Los estudios identificados fueron revisados y analizados. Se presentan los datos de manera cualitativa.  RESULTADOS: De 425 artículos, 62 contenían la información necesaria para hacer el análisis. A pesar de que algunos estudios han presentado evidencia de asociación en relación a las mutaciones encontradas y la clínica, realmente no existe una correlación genotipo-fenotipo comprobada en neurofibromatosis tipo 1. Esto sugiere que para los fenotipos discordantes con genotipo similar existen otros factores que deben considerarse tales como la epigenética, alteraciones genéticas o incluso factores ambientales.  CONCLUSIONES: Es necesario realizar estudios con cohortes más grande de pacientes para seguir estudiando si existe una relación directa o no.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[SUMMARY  INTRODUCTION:  Neurofibromatosis (von Recklinghausen disease) is an autosomal dominant disease that mainly presents cutaneous and neurological manifestations. The objective is to describe if there is a relationship between the mutations found in patients with neurofibromatosis type 1 and the clinical characteristics they present.  METHODS: A narrative review of the literature was carried out in relation to the genotype and phenotype of patients with Neurofibromatosis type 1 using PubMed, Embase, and Lilacs. The following Mesh terms were used: Neurofibromatosis, neurofibromatosis type 1, genes, genotype, phenotype, mutations, exome sequencing. The identified studies were reviewed and analyzed. Data are presented qualitatively  RESULTS: Of 425 articles, 62 contained the information necessary to make the analysis. Although some studies have presented evidence of association in relation to the mutations found and the clinical one, there is still no proven genotype-phenotype correlation in neurofibromatosis type 1. This suggests that, for discordant phenotypes with a similar genotype, there are other factors that must be considered such as epigenetics, genetic alterations or even environmental factors.  CONCLUSIONS:  It is necessary to perform studies with larger cohort of patients to continue studying whether there is a direct relationship or not.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[neurofibromatosis tipo 1]]></kwd>
<kwd lng="es"><![CDATA[genotipo]]></kwd>
<kwd lng="es"><![CDATA[fenotipo]]></kwd>
<kwd lng="es"><![CDATA[manchas café con leche]]></kwd>
<kwd lng="es"><![CDATA[neurofibromas]]></kwd>
<kwd lng="es"><![CDATA[genes (DeCS)]]></kwd>
<kwd lng="en"><![CDATA[neurofibromatosis type 1]]></kwd>
<kwd lng="en"><![CDATA[genotype]]></kwd>
<kwd lng="en"><![CDATA[phenotype]]></kwd>
<kwd lng="en"><![CDATA[cafe-au-lait spots]]></kwd>
<kwd lng="en"><![CDATA[neurofibromas]]></kwd>
<kwd lng="en"><![CDATA[genes (MeSH)]]></kwd>
</kwd-group>
</article-meta>
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