<?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>0864-0289</journal-id>
<journal-title><![CDATA[Revista Cubana de Hematología, Inmunología y Hemoterapia]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Hematol Inmunol Hemoter]]></abbrev-journal-title>
<issn>0864-0289</issn>
<publisher>
<publisher-name><![CDATA[Centro Nacional de Información de Ciencias MédicasEditorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0864-02892020000100003</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Aspectos genéticos moleculares del síndrome de trombocitopenia con ausencia de radios]]></article-title>
<article-title xml:lang="en"><![CDATA[Molecular genetic aspects of the thrombocytopenia syndrome with absent radii]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lavaut Sánchez]]></surname>
<given-names><![CDATA[Kalia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castillo González]]></surname>
<given-names><![CDATA[Dunia de la C]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto de Hematología e Inmunología  ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2020</year>
</pub-date>
<volume>36</volume>
<numero>1</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0864-02892020000100003&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0864-02892020000100003&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0864-02892020000100003&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción: La trombocitopenia con ausencia de radios es un síndrome genético poco frecuente. Se caracteriza por la ausencia bilateral de radios con presencia de ambos pulgares y trombocitopenia. Pueden estar presentes, además, malformaciones en miembros inferiores, cardiovasculares, gastrointestinales, neurológicas y vasculares.  Objetivo:  Analizar los aspectos genéticos moleculares más recientes del síndrome de trombocitopenia.  Métodos:  Se realizó una revisión de la literatura en inglés y español, a través del sitio web PubMed y el motor de búsqueda Google académico, de artículos publicados en los últimos 10 años. Se hizo un análisis y resumen de la bibliografía revisada.  Análisis y síntesis de la información: El patrón de herencia de la enfermedad es autosómico recesivo, un heterocigótico compuesto por un alelo nulo del gen RBM8A, localizado en el locus 1q21.1 y la presencia de un polimorfismo de simple nucleótido en regiones no codificantes en el otro alelo. Este gen codifica la proteína Y14, la cual es uno de los cuatro componentes del complejo de unión de exones, complejo multiproteico que se une al ARNm y que, una vez finalizado el empalme, interviene en la eficiencia de la traducción y la degradación del ARNm que presenten codones de terminación prematura.  Conclusiones:  La trombocitopenia es la primera enfermedad en el humano en la que se describe un defecto en una subunidad del complejo de unión de exones. A pesar del avance en los últimos años en el conocimiento de las bases moleculares de la enfermedad, aún son necesarias nuevas investigaciones para explicar la relación entre el gen RBM8 y las manifestaciones esqueléticas.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Thrombocytopenia with absent radii is a rare genetic syndrome, characterized by bilateral absence of the radii with the presence of both thumbs and thrombocytopenia. In addition, malformations may be present, involving the lower limbs, as well as the cardiovascular, gastrointestinal, neurological, and vascular systems.  Objective: To analyze the most recent molecular genetic aspects of thrombocytopenia syndrome.  Methods:  A review of the literature in English and in Spanish was carried out, in the PubMed website and using the search engine of Google Scholar, for articles published in the last ten years. We performed analysis and summary of the reviewed bibliography.  Information analysis and synthesis:  The disease has an autosomal recessive inheritance pattern, a heterozygote composed of a null allele of the RBM8A gene, located at the 1q21.1 locus and the presence of a single nucleotide polymorphism in non-coding regions in the other allele. This gene encodes the Y14 protein, which is one of the four components of the exon-binding complex, a multiprotein complex that binds to mRNA and that, once splicing is complete, intervenes in the efficiency of translation and degradation of mRNA that have premature termination condons.  Conclusions:  Thrombocytopenia is the first disease in humans in which a defect in a subunit of the exon binding complex was described. Despite the advance in recent years in understanding the molecular basis of the disease, new research is still necessary to explain the relationship between the RBM8 gene and skeletal manifestations.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[trombocitopenia]]></kwd>
<kwd lng="es"><![CDATA[ausencia de radios]]></kwd>
<kwd lng="es"><![CDATA[microdeleción]]></kwd>
<kwd lng="en"><![CDATA[thrombocytopenia]]></kwd>
<kwd lng="en"><![CDATA[radii absence]]></kwd>
<kwd lng="en"><![CDATA[microdeletion]]></kwd>
</kwd-group>
</article-meta>
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