<?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>1657-9534</journal-id>
<journal-title><![CDATA[Colombia Médica]]></journal-title>
<abbrev-journal-title><![CDATA[Colomb. Med.]]></abbrev-journal-title>
<issn>1657-9534</issn>
<publisher>
<publisher-name><![CDATA[Universidad del Valle]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1657-95342019000100040</article-id>
<article-id pub-id-type="doi">10.25100/cm.v50i1.3555</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report]]></article-title>
<article-title xml:lang="es"><![CDATA[Síndrome de Wiedemann-Steiner por una nueva variante patogénica en KMT2A: reporte de un caso]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramirez-Montaño]]></surname>
<given-names><![CDATA[Diana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pachajoa]]></surname>
<given-names><![CDATA[Harry]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Icesi Facultad de Ciencias de la Salud Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Fundación Clínica Valle del Lili  ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2019</year>
</pub-date>
<volume>50</volume>
<numero>1</numero>
<fpage>40</fpage>
<lpage>45</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S1657-95342019000100040&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S1657-95342019000100040&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S1657-95342019000100040&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Case Description:  We report the case of a one-year-old girl who was diagnosed with Wiedemann-Steiner Syndrome based on the identification of a novel de novo frameshift mutation in the KMT2A gene by whole exome sequencing and supported by her clinical features.  Clinical Findings: KMT2A mutations cause Wiedemann-Steiner Syndrome, a very rare genetic disorder characterized by congenital hypertrichosis, short stature, intellectual disability, and distinct facial features.  Treatment and Outcome:  Whole exome sequencing identified a novel frameshift variant: c. 4177dupA (p.Ile1393Asnfs * 14) in KMT2A; this change generates an alteration of the specific binding to non-methylated CpG motifs of the DNA to the protein. The genotype and phenotype of the patient were compared with those of earlier reported patients in the literature.  Clinical Relevance:  In diseases with low frequency, it is necessary to establish a genotype-phenotype correlation that allows the establishment of therapeutic and follow-up goals. The phenotype comparation with other reported cases did not show differences attributable to sex or age among patients with Wiedemann-Steiner Syndrome. Whole exome sequencing allows identifying causality in conditions with high clinical and genetic heterogeneity like hypertrichosis.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Descripción del caso:  Se reporta el caso de una paciente femenina de un año de edad, diagnosticada con Síndrome de Wiedemann-Steiner basado en la identificación de una nueva variante patogénica de novo de tipo frameshift en el gen KMT2A Mediante secuenciación de exoma usando el enfoque de trio, sumado a sus características clínicas.  Hallazgos clínicos: las mutaciones en KMT2A causan el Síndrome de Wiedemann-Steiner, un desorden genético muy raro caracterizado por hipertricosis congénita, talla baja, retardo mental variable y fenotipo facial distintivo, los cuales se encuentran en la paciente reportada.  Resultado:  La Secuenciación de exoma completo encontró una variante de tipo frameshift: c.4177dupA (p. Ile1393Asnfs * 14) en KMT2A, este cambio a nivel génico genera una alteración de la unión específica a motivos CpG no metilados del DNA a la proteína. El genotipo y el fenotipo de la paciente fue comparado con los pacientes reportados previamente en la literatura.  Relevancia clínica: En enfermedades con baja frecuencia como la aquí reportada es necesario establecer correlaciones genotipo-fenotipo que permitan establecer planes terapéuticos y de seguimiento. El análisis realizado no evidenció diferencias atribuibles a sexo o edad entre los pacientes diagnosticados con Síndrome de Weidemann-Steiner. La secuenciación de exoma permitió identificar causalidad en este caso, cuya característica principal de hipertricosis se asocia con alta heterogeneidad clínica y genética.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Frameshift mutation]]></kwd>
<kwd lng="en"><![CDATA[histone methyltransferases]]></kwd>
<kwd lng="en"><![CDATA[hypertrichosis]]></kwd>
<kwd lng="en"><![CDATA[intellectual disability]]></kwd>
<kwd lng="en"><![CDATA[whole exome sequencing]]></kwd>
<kwd lng="es"><![CDATA[Secuenciación del Exoma completo]]></kwd>
<kwd lng="es"><![CDATA[Hipertricosis]]></kwd>
<kwd lng="es"><![CDATA[Mutación frameshift, Metiltransferasa de histonas]]></kwd>
<kwd lng="es"><![CDATA[Discapacidad intelectual]]></kwd>
</kwd-group>
</article-meta>
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