<?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>0211-6995</journal-id>
<journal-title><![CDATA[Nefrología (Madrid)]]></journal-title>
<abbrev-journal-title><![CDATA[Nefrología (Madr.)]]></abbrev-journal-title>
<issn>0211-6995</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Española de Nefrología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0211-69952017000400423</article-id>
<article-id pub-id-type="doi">10.1016/j.nefro.2017.01.007</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry]]></article-title>
<article-title xml:lang="es"><![CDATA[Una nueva mutación fundadora en SLC12A3 (p.Val647Met) en pacientes con síndrome de Gitelman de etnia gitana]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gil-Peña]]></surname>
<given-names><![CDATA[Helena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Coto]]></surname>
<given-names><![CDATA[Eliecer]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santos]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Espino]]></surname>
<given-names><![CDATA[Mar]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cea Crespo]]></surname>
<given-names><![CDATA[Jose Mª]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Chantzopoulos]]></surname>
<given-names><![CDATA[Giannis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Komianou]]></surname>
<given-names><![CDATA[Filadelfia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gómez]]></surname>
<given-names><![CDATA[Juan]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Alonso]]></surname>
<given-names><![CDATA[Belén]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Iglesias]]></surname>
<given-names><![CDATA[Sara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Treard]]></surname>
<given-names><![CDATA[Cyrielle]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vargas-Poussou]]></surname>
<given-names><![CDATA[Rosa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Universitario Central Asturias Departamento Pediatría-RENALTUBE Consortium ]]></institution>
<addr-line><![CDATA[Oviedo ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Universitario Central Asturias Departamento Genética Molecular-Red de Investigación Renal ]]></institution>
<addr-line><![CDATA[Oviedo ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Doce de Octubre  ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Severo Ochoa  ]]></institution>
<addr-line><![CDATA[Leganés ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Aghia Sophia Children's Hospital Departament Pediatrics ]]></institution>
<addr-line><![CDATA[Athens ]]></addr-line>
<country>Greece</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Hôpital Européen Georges Pompidou  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>France</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2017</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2017</year>
</pub-date>
<volume>37</volume>
<numero>4</numero>
<fpage>423</fpage>
<lpage>428</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S0211-69952017000400423&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S0211-69952017000400423&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S0211-69952017000400423&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are homozygous for an SLC12A3 intron 9 frameshifting mutation (c.1180+1G&gt;T). Some forms of Bartter's syndrome result from mutations in the CLNCKB gene and clinically overlap with GS.  Objectives: To characterize a second SLC12A3 mutation in Roma patients negative for the intron 9 variant.  Methods: SLC12A3 and CLNCKB genes were analyzed by next-generation sequencing in two Spanish and Greek gypsy patients who were negative for the intron 9 splicing mutation. Sanger sequencing was performed to confirm the putative mutations in patients and family members.  Results: We identified a missense variant (p.Val647Met, c.1939G&gt;A) in both cases, and both were homozygous for Met. This mutation was also found in three additional patients; two homozygous and one heterozygous compound with the intron 9 splicing mutation. This new SLC12A3 mutation seems to be characteristic of gipsy GS patients and was linked to the same haplotype in all cases, supporting a founder origin. All the patients showed biochemical features characteristic of GS.  Conclusion: We report a second founder mutation among GS patients of Roma ethnic background. The direct screening of this mutation would facilitate the characterization of patients who are negative for the more common intron 9 +1G&gt;T mutation.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Antecedentes: El síndrome de Gitelman (SG) es un trastorno autosómico recesivo causado por las mutaciones en el gen SLC12A3.El SG se caracteriza por una alcalosis metabólica hipopotasémica, hipomagnesemia e hipocalciuria. La mayoría de los pacientes de etnia gitana notificados son homocigotos para la mutación con desplazamiento del marco de lectura del intrón 9 de SLC12A3 (c.1180 + 1G&gt;T). Algunas formas del síndrome de Bartter proceden de las mutaciones del gen CLNCKB y se solapan clínicamente con el SG.  Objetivos: Determinar las características de una segunda mutación en SLC12A3 en pacientes de etnia gitana con resultados negativos en la variante intrón 9.  Métodos: Se analizaron los genes SLC12A3 y CLNCKB mediante secuenciación de nueva generación en 2 pacientes -uno español y otro griego- de etnia gitana con resultados negativos en la mutación de empalme del intrón 9. Se llevó a cabo una secuenciación de Sanger para confirmar las supuestas mutaciones en los pacientes y sus familiares.  Resultados: Se identificó una variante con cambio de sentido (p.Val647Met, c.1939G&gt;A) en ambos casos, y ambos eran homocigotos con respecto a Met. También se observó esta mutación en 3 pacientes adicionales, 2 homocigotos y uno heterocigoto compuesto con la mutación del intrón 9. Esta nueva mutación del SLC12A3 parece ser característica de los pacientes con SG de etnia gitana y se relacionó con el mismo haplotipo en todos los casos, lo que indica un origen fundador. Todos los pacientes presentaron rasgos bioquímicos propios del SG.  Conclusión: Informamos de una segunda mutación fundadora en los pacientes con SG de etnia gitana. El cribado genético directo de esta mutación facilitará la determinación de las características de los pacientes con resultados negativos en la mutación del intrón 9+1G&gt;T, que es más frecuente.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Gitelman&#8217;s síndrome]]></kwd>
<kwd lng="en"><![CDATA[SLC12A3 gene]]></kwd>
<kwd lng="en"><![CDATA[Gypsy patients]]></kwd>
<kwd lng="en"><![CDATA[Roma genetic background]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Gitelman]]></kwd>
<kwd lng="es"><![CDATA[Gen SLC12A3]]></kwd>
<kwd lng="es"><![CDATA[Pacientes de etnia gitana]]></kwd>
<kwd lng="es"><![CDATA[Antecedentes genéticos gitanos]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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