<?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>1665-5044</journal-id>
<journal-title><![CDATA[Revista mexicana de neurociencia]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. mex. neurocienc.]]></abbrev-journal-title>
<issn>1665-5044</issn>
<publisher>
<publisher-name><![CDATA[Academia Mexicana de Neurología A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-50442022000200051</article-id>
<article-id pub-id-type="doi">10.24875/rmn.21000044</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Intermediate and expanded FMR1 alleles in an autistic Costa Rican population]]></article-title>
<article-title xml:lang="es"><![CDATA[Alelos intermedios y expandidos en el gen FMR1 en una población con autismo de Costa Rica]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vindas-Smith]]></surname>
<given-names><![CDATA[Rebeca]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sequeira-Cordero]]></surname>
<given-names><![CDATA[Andrey]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castro-Volio]]></surname>
<given-names><![CDATA[Isabel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Jiménez-González]]></surname>
<given-names><![CDATA[Patricia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cuenca]]></surname>
<given-names><![CDATA[Patricia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Saborío-Rocafort]]></surname>
<given-names><![CDATA[Manuel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fallas]]></surname>
<given-names><![CDATA[Marietha]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vásquez]]></surname>
<given-names><![CDATA[Melissa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Costa Rica Instituto de Investigaciones en Salud ]]></institution>
<addr-line><![CDATA[San José ]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Caja Costarricense del Seguro Social Hospital Nacional de Niños &#8220;Dr. Sáenz Herrera&#8221; ]]></institution>
<addr-line><![CDATA[San José ]]></addr-line>
<country>Costa Rica</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2022</year>
</pub-date>
<volume>23</volume>
<numero>2</numero>
<fpage>51</fpage>
<lpage>56</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-50442022000200051&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-50442022000200051&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-50442022000200051&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Objective: We aimed to determine the distribution of intermediate and expanded FMR1 alleles in Costa Rican individuals diagnosed with autism.  Materials and methods: A total of 212 autism spectrum disorder (ASD) cases of Costa Rican individuals and 943 male newborn controls were screened by means of polymerase chain reaction to determine the frequency of intermediate, premutation, and full mutation FMR1 alleles. Full mutation suspected cases were confirmed by Southern blot analyses. Frequencies of FMR1 alleles in the case group were compared with frequencies observed in a population-based sample of male newborn controls.  Results: A significant excess of intermediate allele carriers was found in ASD individuals as compared to controls (&#967;2 test, p &lt; 0.001). Four, out of 188 males in the case group, were identified as full mutation carriers.  Conclusions: Our results suggest a possible involvement of the gray zone or intermediate alleles in ASD.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Objetivo: Determinar la distribución de los alelos FMR1 intermedios y expandidos en individuos costarricenses diagnosticados con autismo.  Materiales y métodos: Para determinar la frecuencia de la mutación intermedia, la premutación y la mutación completa en el gen FMR1, se tamizaron 212 casos con autismo y 943 recién nacidos de sexo masculino como controles. Los casos con sospecha de ser portadores de la mutación completa se confirmaron mediante análisis de transferencia de Southern. Las frecuencias de los alelos del gen FMR1 en el grupo de casos se compararon con las frecuencias observadas en una muestra basada en la población de controles de recién nacidos varones.  Resultados: Se encontró un exceso significativo de portadores de alelos intermedios en los individuos con autismo en comparación con los controles (&#967;2, p &lt; 0.001). Cuatro varones del grupo de casos fueron identificados como portadores de la mutación completa.  Conclusiones: Nuestros resultados sugieren una posible participación de los alelos intermedios en el autismo.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Autism spectrum disorder]]></kwd>
<kwd lng="en"><![CDATA[Fragile X syndrome]]></kwd>
<kwd lng="en"><![CDATA[Intermediate allele]]></kwd>
<kwd lng="en"><![CDATA[Expanded allele]]></kwd>
<kwd lng="en"><![CDATA[FMR1]]></kwd>
<kwd lng="es"><![CDATA[Trastorno del espectro autista]]></kwd>
<kwd lng="es"><![CDATA[Síndrome del cromosoma X frágil]]></kwd>
<kwd lng="es"><![CDATA[Alelo intermedio]]></kwd>
<kwd lng="es"><![CDATA[Alelo expandido]]></kwd>
<kwd lng="es"><![CDATA[FMR1]]></kwd>
</kwd-group>
</article-meta>
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