<?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>1726-8958</journal-id>
<journal-title><![CDATA[Revista Médica La Paz]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Méd. La Paz]]></abbrev-journal-title>
<issn>1726-8958</issn>
<publisher>
<publisher-name><![CDATA[Colegio Médico de La Paz]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1726-89582023000100059</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[ANÁLISIS MOLECULAR DE UN PACIENTE BOLIVIANO CON TROMBOCITOPENIA SINDRÓMICA RELACIONADA AL GEN MYH9]]></article-title>
<article-title xml:lang="en"><![CDATA[MOLECULAR ANALYSIS OF A BOLIVIAN PATIENT WITH SYNDROMIC THROMBOCYTOPENIA RELATED TO THE MYH9 GENE]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Luna Barrón]]></surname>
<given-names><![CDATA[Beatriz]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Limache Valderrama]]></surname>
<given-names><![CDATA[Silvana María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ninahuanca Terán]]></surname>
<given-names><![CDATA[Aneliz]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Médico genetista  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,Bioquímica  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<volume>29</volume>
<numero>1</numero>
<fpage>59</fpage>
<lpage>64</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_arttext&amp;pid=S1726-89582023000100059&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_abstract&amp;pid=S1726-89582023000100059&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_pdf&amp;pid=S1726-89582023000100059&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN La trombocitopenia como motivo de consulta, requiere la búsqueda intencionada de orientar manifestaciones extrahematológicas. La megacariogénesis pasa por distintas etapas dependientes de la interacción de varios genes, entre ellos el  MYH9, cuya expresión permite una adecuada formación y migración de las proplaquetas al ser liberadas al torrente sanguíneo, al mismo tiempo, existen estructuras con fisiología similar a nivel de citoesqueleto (podocitos, cilios cocleares, etc.) que podrían vincular a datos de pérdida de audición, enfermedad renal, cataratas y elevación de enzimas hepáticas conllevando a una enfermedad relacionada al gen  MYH9. Se presenta el caso de un adolescente, de sexo masculino, con trombocitopenia recurrente, con el antecedente de padre con coagulopatía inespecífica, pérdida de audición, falla renal crónica, quien falleció a los 34 años por hemorragia intraparenquimatosa y edema cerebral severo, en quien se identifica una variante patogénica en heterocigosis en el gen  MYH9, poniendo en relevancia la expresividad variable y efectos pleiotrópicos de este gen.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Thrombocytopenia as a reason for consultation requires an intense search to guide extrahematological manifestations. Megakaryogenesis goes through different stages depending on the interaction of several genes, including MYH9, whose expression allows proper formation and migration of proplatelets when released into the bloodstream, at the same time, there are structures with similar physiology at the cytoskeleton level (podocytes, cochlear cilia, etc.) that could be linked to data on hearing loss, kidney disease, cataracts and elevated liver enzymes leading to a disease related to the MYH9 gene. We present the case of an adolescent, male, with recurrent thrombocytopenia, with a history of a father with nonspecific coagulopathy, hearing loss, chronic kidney failure, who died at the age of 34 due to intraparenchymal hemorrhage and severe cerebral edema, in whom identifies a heterozygous pathogenic variant in the MYH9 gene, highlighting the variable expressivity and pleiotropic effects of this gene.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Gen MYH9]]></kwd>
<kwd lng="es"><![CDATA[trombocitopenia sindrómica]]></kwd>
<kwd lng="en"><![CDATA[MYH9 gene]]></kwd>
<kwd lng="en"><![CDATA[syndromic thrombocytopenia]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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