<?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>1665-1146</journal-id>
<journal-title><![CDATA[Boletín médico del Hospital Infantil de México]]></journal-title>
<abbrev-journal-title><![CDATA[Bol. Med. Hosp. Infant. Mex.]]></abbrev-journal-title>
<issn>1665-1146</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud, Hospital Infantil de México Federico Gómez]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-11462025000600008</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.24000182</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Variante de significado incierto en el gen DNAI1 en un niño con fenotipo típico de discinesia ciliar primaria]]></article-title>
<article-title xml:lang="en"><![CDATA[Variant of uncertain significance in the DNAI1 gene in a child with typical primary ciliary dyskinesia phenotype]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Nuñez-Paucar]]></surname>
<given-names><![CDATA[Héctor]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gutiérrez-Iparraguirre]]></surname>
<given-names><![CDATA[Geovanna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Atamari-Anahui]]></surname>
<given-names><![CDATA[Noé]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Purizaca-Rosillo]]></surname>
<given-names><![CDATA[Nelson]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valera-Moreno]]></surname>
<given-names><![CDATA[Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Torres-Salas]]></surname>
<given-names><![CDATA[Juan]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Medina-Sanabria]]></surname>
<given-names><![CDATA[Giuliana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Nacional de Salud del Niño-Breña Servicio de Neumología Pediátrica ]]></institution>
<addr-line><![CDATA[Lima ]]></addr-line>
<country>Perú</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad San Ignacio de Loyola Vicerrectorado de Investigación Unidad de Investigación para la Generación y Síntesis de Evidencias en Salud]]></institution>
<addr-line><![CDATA[Lima ]]></addr-line>
<country>Perú</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto Nacional de Salud del Niño-San Borja Servicio de Anatomía Patológica ]]></institution>
<addr-line><![CDATA[Lima ]]></addr-line>
<country>Perú</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Nacional Edgardo Rebagliati Martins Servicio de Genética ]]></institution>
<addr-line><![CDATA[Lima ]]></addr-line>
<country>Perú</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2025</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2025</year>
</pub-date>
<volume>82</volume>
<numero>6</numero>
<fpage>391</fpage>
<lpage>396</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462025000600008&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462025000600008&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462025000600008&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: La discinesia ciliar primaria es un trastorno genético heterogéneo autosómico recesivo caracterizado por disfunción de la motilidad ciliar. Se han reportado variantes de significado incierto en pacientes con fenotipo compatible con discinesia ciliar primaria.  Caso clínico: Varón de 15 años con historia de infecciones respiratorias y cuadros obstructivos bronquiales recurrentes desde el periodo neonatal. Los estudios radiológicos mostraron atelectasias, alteración de los senos paranasales y bronquiectasias. La ultraestructura ciliar mostró ausencia del par de microtúbulos centrales, de los brazos externos e internos de dineína, y desorganización microtubular. El panel genético reportó una variante genética de significado incierto en el gen DNAI1 (NM_012144.4): c.1489+5G&gt;A. Fue tratado con antibioticoterapia, nebulizaciones con solución salina hipertónica y fisioterapia respiratoria, con buena evolución en el seguimiento.  Conclusiones: Es importante el reporte de una variante de significado incierto en el gen DNAI1 en un paciente con fenotipo clínico y hallazgos de clase 1 en la microscopía electrónica ciliar compatibles con discinesia ciliar primaria, con el fin de aportar a la reclasificación de variantes.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background: Primary ciliary dyskinesia is an autosomal recessive heterogeneous genetic disorder characterized by dysfunction of ciliary motility. Variants of uncertain significance have been reported in patients with a phenotype compatible with primary ciliary dyskinesia.  Clinical case: A 15-year-old male adolescent with a history of respiratory infections and recurrent bronchial obstructive symptoms since the neonatal period. Radiological studies showed atelectasis, paranasal sinus alterations, and bronchiectasis. Ciliary ultrastructure showed the absence of the central microtubule pair, the external and internal dynein arms, and microtubular disorganization. The genetic panel reported a genetic variant of uncertain significance in the DNAI1 gene (NM_012144.4): c.1489+5G&gt;A. He was treated with antibiotic therapy, nebulizations with hypertonic saline solution, and respiratory physiotherapy with good evolution during follow-up.  Conclusions: It is important to report a variant of uncertain significance in the DNAI1 gene in a patient with a clinical phenotype and class 1 findings in ciliary electron microscopy compatible with primary ciliary dyskinesia, to contribute to the reclassification of variants.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Discinesia ciliar primaria]]></kwd>
<kwd lng="es"><![CDATA[Fenotipo]]></kwd>
<kwd lng="es"><![CDATA[Gen]]></kwd>
<kwd lng="es"><![CDATA[Microscopía electrónica de transmisión]]></kwd>
<kwd lng="es"><![CDATA[Niño]]></kwd>
<kwd lng="en"><![CDATA[Primary ciliary dyskinesia]]></kwd>
<kwd lng="en"><![CDATA[Phenotype]]></kwd>
<kwd lng="en"><![CDATA[Gene]]></kwd>
<kwd lng="en"><![CDATA[Transmission electron microscopy]]></kwd>
<kwd lng="en"><![CDATA[Child]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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