<?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>S1665-11462021000400356</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.20000121</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Rett: reporte de una nueva variante patogénica y revisión de la literatura a propósito de dos casos clínicos]]></article-title>
<article-title xml:lang="en"><![CDATA[Rett syndrome: report of a new pathogenic variant and review of the literature regarding two clinical cases]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Jara-Ettinger]]></surname>
<given-names><![CDATA[Ana C.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Suárez-Hortiales]]></surname>
<given-names><![CDATA[Sabino]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Torre-García]]></surname>
<given-names><![CDATA[Oliver De la]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Mexicano del Seguro Social Centro Médico Nacional Siglo XXI Unidad Médica de Alta Especialidad Hospital de Pediatría]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Secretaría de Marina Centro Médico Naval ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2021</year>
</pub-date>
<volume>78</volume>
<numero>4</numero>
<fpage>356</fpage>
<lpage>361</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462021000400356&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462021000400356&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462021000400356&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: El síndrome de Rett es un trastorno del neurodesarrollo con una frecuencia estimada de 1/10,000 recién nacidos vivos, el cual se presenta con un modelo de herencia ligado al cromosoma X. Las variantes patogénicas en el gen MECP2, el cual codifica para una proteína que participa en el desarrollo y la diferenciación del sistema nervioso central, causan este síndrome. El objetivo de este trabajo fue describir dos casos de síndrome de Rett, uno de ellos con una nueva variante del gen MECP2.  Casos clínicos: El primer caso se trata de una paciente de 5 años con microcefalia y regresión del neurodesarrollo desde los 3 años. Clínicamente se diagnosticó de síndrome de Rett en estadio III. Se realizó la secuenciación del gen MECP2 y se identificó una variante probablemente patogénica en estado heterocigoto, c.606delC (p.Thr203Argfs*7), que no ha sido reportada previamente. El segundo caso es una paciente de 17 años, referida por discapacidad intelectual grave, que se encontró clínicamente en estadio IV. Se realizó la secuenciación de MECP2 y se identificó una variante patogénica [c.880C&gt;T(p.Arg294*)] ya descrita previamente.  Conclusiones: El diagnóstico clínico de síndrome de Rett se llevó a cabo con criterios establecidos. La confirmación diagnóstica fue mediante la secuenciación de MECP2. Para el correcto abordaje de los trastornos del neurodesarrollo es primordial conocer el fenotipo de síndrome de Rett, así como optar por el análisis molecular para la confirmación del diagnóstico. Los pacientes con síndrome de Rett requieren un seguimiento interdisciplinario para disminuir el impacto de las complicaciones.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background: Rett syndrome is an X-linked neurodevelopmental disorder with an estimated frequency of 1/10,000 live births caused by hetereozygous pathogenic variants in the MECP2 gene, whose protein participates in the development and differentiation of the central nervous system. This study aimed to describe two cases with Rett syndrome diagnosis, one of them with a new variant of the MECP2 gene.  Case reports: We first describe the case of a 5-year-old female with microcephaly and neurodevelopmental regression starting at 3 years old, clinically corresponding to stage III Rett syndrome. Sequencing of the MECP2 gene identified a heterozygous likely pathogenic variant [c.606delC (p.Thr203Argfs*7)] not reported previously. The second case is a 17-year-old female, referred due to severe intellectual disability, clinically found on stage IV. MECP2 sequencing was performed identifying a pathogenic variant previously described [c.880C&gt; T (p.Arg294 *)].  Conclusions: Rett syndrome clinical diagnosis was carried out based on established criteria. MECP2 sequencing confirmed the diagnosis. For neurodevelopmental disorders approach, it is essential to know the phenotype of Rett syndrome and select the molecular tool for the diagnosis. Patients with Rett syndrome require interdisciplinary follow-up for reducing the impact of complications.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Rett]]></kwd>
<kwd lng="es"><![CDATA[Autismo]]></kwd>
<kwd lng="es"><![CDATA[Proteína de unión a CpG metilada (MECP2)]]></kwd>
<kwd lng="es"><![CDATA[Trastorno del neurodesarrollo]]></kwd>
<kwd lng="en"><![CDATA[Rett syndrome]]></kwd>
<kwd lng="en"><![CDATA[Autism]]></kwd>
<kwd lng="en"><![CDATA[Methyl-CpG binding protein (MECP2)]]></kwd>
<kwd lng="en"><![CDATA[Neurodevelopmental disorder]]></kwd>
</kwd-group>
</article-meta>
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