Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients
Identifieur interne : 001994 ( Istex/Corpus ); précédent : 001993; suivant : 001995Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients
Auteurs : Lize V. Ferreira ; Silvia C. A. L. Souza ; Luciana R. Montenegro ; Alexsandra C. Malaquias ; Ivo J. P. Arnhold ; Berenice B. Mendonca ; Alexander A. L. JorgeSource :
- Clinical Endocrinology [ 0300-0664 ] ; 2008-09.
Abstract
Background Mutations in the PTPN11 gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and PTPN11 is a good candidate for involvement in the pathogenesis of ISS.
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DOI: 10.1111/j.1365-2265.2008.03234.x
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients</title><author><name sortKey="Ferreira, Lize V" sort="Ferreira, Lize V" uniqKey="Ferreira L" first="Lize V." last="Ferreira">Lize V. Ferreira</name><affiliation><mods:affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Souza, Silvia C A L" sort="Souza, Silvia C A L" uniqKey="Souza S" first="Silvia C. A. L." last="Souza">Silvia C. A. L. Souza</name><affiliation><mods:affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Montenegro, Luciana R" sort="Montenegro, Luciana R" uniqKey="Montenegro L" first="Luciana R." last="Montenegro">Luciana R. Montenegro</name><affiliation><mods:affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Malaquias, Alexsandra C" sort="Malaquias, Alexsandra C" uniqKey="Malaquias A" first="Alexsandra C." last="Malaquias">Alexsandra C. Malaquias</name><affiliation><mods:affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Arnhold, Ivo J P" sort="Arnhold, Ivo J P" uniqKey="Arnhold I" first="Ivo J. P." last="Arnhold">Ivo J. P. Arnhold</name><affiliation><mods:affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Mendonca, Berenice B" sort="Mendonca, Berenice B" uniqKey="Mendonca B" first="Berenice B." last="Mendonca">Berenice B. 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Ferreira</name><affiliation><mods:affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Souza, Silvia C A L" sort="Souza, Silvia C A L" uniqKey="Souza S" first="Silvia C. A. L." last="Souza">Silvia C. A. L. Souza</name><affiliation><mods:affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Montenegro, Luciana R" sort="Montenegro, Luciana R" uniqKey="Montenegro L" first="Luciana R." last="Montenegro">Luciana R. Montenegro</name><affiliation><mods:affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Malaquias, Alexsandra C" sort="Malaquias, Alexsandra C" uniqKey="Malaquias A" first="Alexsandra C." last="Malaquias">Alexsandra C. Malaquias</name><affiliation><mods:affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Arnhold, Ivo J P" sort="Arnhold, Ivo J P" uniqKey="Arnhold I" first="Ivo J. P." last="Arnhold">Ivo J. P. Arnhold</name><affiliation><mods:affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Mendonca, Berenice B" sort="Mendonca, Berenice B" uniqKey="Mendonca B" first="Berenice B." last="Mendonca">Berenice B. Mendonca</name><affiliation><mods:affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Jorge, Alexander A L" sort="Jorge, Alexander A L" uniqKey="Jorge A" first="Alexander A. L." last="Jorge">Alexander A. L. Jorge</name><affiliation><mods:affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Endocrinology</title><title level="j" type="alt">CLINICAL ENDOCRINOLOGY</title><idno type="ISSN">0300-0664</idno><idno type="eISSN">1365-2265</idno><imprint><biblScope unit="vol">69</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="426">426</biblScope><biblScope unit="page" to="431">431</biblScope><biblScope unit="page-count">6</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2008-09">2008-09</date></imprint><idno type="ISSN">0300-0664</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0300-0664</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Background Mutations in the PTPN11 gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and PTPN11 is a good candidate for involvement in the pathogenesis of ISS.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>mutation</json:string><json:string>noonan</json:string><json:string>noonan syndrome</json:string><json:string>genetics</json:string><json:string>burgt</json:string><json:string>endocrinology</json:string><json:string>short stature</json:string><json:string>clinical endocrinology</json:string><json:string>phenotype</json:string><json:string>syndrome</json:string><json:string>idiopathic</json:string><json:string>omim</json:string><json:string>medical genetics</json:string><json:string>cohort</json:string><json:string>tartaglia</json:string><json:string>american journal</json:string><json:string>gelb</json:string><json:string>germline</json:string><json:string>stenosis</json:string><json:string>phosphatase</json:string><json:string>coding region</json:string><json:string>authors journal compilation</json:string><json:string>blackwell publishing</json:string><json:string>nature genetics</json:string><json:string>clinical signs</json:string><json:string>human genetics</json:string><json:string>pathogenesis</json:string><json:string>nonreceptor type</json:string><json:string>dysmorphic syndromes</json:string><json:string>previous studies</json:string><json:string>congenital heart defects</json:string><json:string>growth impairment</json:string><json:string>shox mutations</json:string><json:string>triangular face</json:string><json:string>molecular studies</json:string><json:string>laboratory data</json:string><json:string>present cohort</json:string><json:string>clinical synopsis</json:string></teeft></keywords><author><json:item><name>Lize V. Ferreira</name><affiliations><json:string>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</json:string></affiliations></json:item><json:item><name>Silvia C. A. L. Souza</name><affiliations><json:string>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</json:string></affiliations></json:item><json:item><name>Luciana R. Montenegro</name><affiliations><json:string>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</json:string></affiliations></json:item><json:item><name>Alexsandra C. Malaquias</name><affiliations><json:string>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</json:string></affiliations></json:item><json:item><name>Ivo J. P. Arnhold</name><affiliations><json:string>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</json:string></affiliations></json:item><json:item><name>Berenice B. Mendonca</name><affiliations><json:string>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</json:string></affiliations></json:item><json:item><name>Alexander A. L. Jorge</name><affiliations><json:string>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</json:string></affiliations></json:item></author><articleId><json:string>CEN3234</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><qualityIndicators><score>4.987</score><pdfVersion>1.3</pdfVersion><pdfPageSize>595.206 x 782.408 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>335</abstractCharCount><pdfWordCount>4315</pdfWordCount><pdfCharCount>27605</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>56</abstractWordCount></qualityIndicators><title>Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients</title><genre><json:string>article</json:string></genre><host><title>Clinical Endocrinology</title><language><json:string>unknown</json:string></language><doi><json:string>10.1111/(ISSN)1365-2265</json:string></doi><issn><json:string>0300-0664</json:string></issn><eissn><json:string>1365-2265</json:string></eissn><publisherId><json:string>CEN</json:string></publisherId><volume>69</volume><issue>3</issue><pages><first>426</first><last>431</last><total>6</total></pages><genre><json:string>journal</json:string></genre></host><categories><wos><json:string>science</json:string><json:string>endocrinology & metabolism</json:string></wos><scienceMetrix><json:string>health sciences</json:string><json:string>clinical medicine</json:string><json:string>endocrinology & metabolism</json:string></scienceMetrix></categories><publicationDate>2008</publicationDate><copyrightDate>2008</copyrightDate><doi><json:string>10.1111/j.1365-2265.2008.03234.x</json:string></doi><id>3806DDA45B15FB76C519D7D35106E53866CA4588</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/3806DDA45B15FB76C519D7D35106E53866CA4588/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/3806DDA45B15FB76C519D7D35106E53866CA4588/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/3806DDA45B15FB76C519D7D35106E53866CA4588/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main">Analysis of the <hi rend="italic">PTPN11</hi> gene in idiopathic short stature children and Noonan syndrome patients</title></titleStmt><publicationStmt><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><availability><licence>© 2008 The Authors. Journal compilation © 2008 Blackwell Publishing Ltd</licence></availability><date type="published" when="2008-09"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main">Analysis of the <hi rend="italic">PTPN11</hi> gene in idiopathic short stature children and Noonan syndrome patients</title><title level="a" type="short">PTPN11 in idiopathic short stature and Noonan syndrome</title><author xml:id="author-0000"><persName><forename type="first">Lize V.</forename><surname>Ferreira</surname></persName><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil<address><country key="BR"></country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">Silvia C. A. L.</forename><surname>Souza</surname></persName><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil<address><country key="BR"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Luciana R.</forename><surname>Montenegro</surname></persName><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil<address><country key="BR"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Alexsandra C.</forename><surname>Malaquias</surname></persName><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil<address><country key="BR"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Ivo J. P.</forename><surname>Arnhold</surname></persName><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil<address><country key="BR"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Berenice B.</forename><surname>Mendonca</surname></persName><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil<address><country key="BR"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Alexander A. L.</forename><surname>Jorge</surname></persName><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil<address><country key="BR"></country></address></affiliation></author><idno type="istex">3806DDA45B15FB76C519D7D35106E53866CA4588</idno><idno type="DOI">10.1111/j.1365-2265.2008.03234.x</idno><idno type="unit">CEN3234</idno><idno type="toTypesetVersion">file:CEN.CEN3234.pdf</idno></analytic><monogr><title level="j" type="main">Clinical Endocrinology</title><title level="j" type="alt">CLINICAL ENDOCRINOLOGY</title><idno type="pISSN">0300-0664</idno><idno type="eISSN">1365-2265</idno><idno type="book-DOI">10.1111/(ISSN)1365-2265</idno><idno type="book-part-DOI">10.1111/cen.2008.69.issue-3</idno><idno type="product">CEN</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">69</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="426">426</biblScope><biblScope unit="page" to="431">431</biblScope><biblScope unit="page-count">6</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2008-09"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Summary</head><p><hi rend="bold">Background </hi> Mutations in the <hi rend="italic">PTPN11</hi> gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and <hi rend="italic">PTPN11</hi> is a good candidate for involvement in the pathogenesis of ISS.</p><p><hi rend="bold">Objective </hi> To evaluate the presence of mutations in <hi rend="italic">PTPN11</hi> in ISS children who presented NS‐related signs and in well‐characterized NS patients.</p><p><hi rend="bold">Patients and methods </hi> We studied 50 ISS children who presented at least two NS‐associated signs but did not fulfil the criteria for NS diagnosis. Forty‐nine NS patients diagnosed by the criteria of van der Burgt <hi rend="italic">et al</hi>.<ref type="bibr" target="#b3"><hi rend="superscript">3</hi></ref> were used to assess the adequacy of these criteria to select patients for <hi rend="italic">PTPN11</hi> mutation screening. The coding region of<hi rend="italic"> PTPN11</hi> was amplified by polymerase chain reaction (PCR), followed by direct sequencing.</p><p><hi rend="bold">Results </hi> No mutations or polymorphisms were found in the coding region of the <hi rend="italic">PTPN11</hi> gene in ISS children. Nineteen of the 49 NS patients (39%) presented mutations in <hi rend="italic">PTPN11</hi>. No single characteristic enabled us to distinguish between NS patients with or without <hi rend="italic">PTPN11</hi> mutations.</p><p><hi rend="bold">Conclusion </hi> Considering that no mutations were found in the present cohort with NS‐related signs, it is unlikely that mutations would be found in unselected ISS children. The van der Burgt <hi rend="italic">et al</hi>. criteria are adequate in attaining NS diagnosis and selecting patients for molecular studies. Mutations in the <hi rend="italic">PTPN11</hi> gene are commonly involved in the pathogenesis of NS but are not a common cause of ISS.</p></abstract><textClass><classCode scheme="tocHeading1">Original Articles</classCode><classCode scheme="tocHeading2">Paediatric Endocrinology</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/3806DDA45B15FB76C519D7D35106E53866CA4588/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1365-2265</doi><issn type="print">0300-0664</issn><issn type="electronic">1365-2265</issn><idGroup><id type="product" value="CEN"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="CLINICAL ENDOCRINOLOGY">Clinical Endocrinology</title></titleGroup></publicationMeta><publicationMeta level="part" position="09003"><doi origin="wiley">10.1111/cen.2008.69.issue-3</doi><numberingGroup><numbering type="journalVolume" number="69">69</numbering><numbering type="journalIssue" number="3">3</numbering></numberingGroup><coverDate startDate="2008-09">September 2008</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="12" status="forIssue"><doi origin="wiley">10.1111/j.1365-2265.2008.03234.x</doi><idGroup><id type="unit" value="CEN3234"></id></idGroup><countGroup><count type="pageTotal" number="6"></count></countGroup><titleGroup><title type="tocHeading1">Original Articles</title><title type="tocHeading2">Paediatric Endocrinology</title></titleGroup><copyright>© 2008 The Authors. Journal compilation © 2008 Blackwell Publishing Ltd</copyright><eventGroup><event type="firstOnline" date="2008-03-10"></event><event type="publishedOnlineFinalForm" date="2008-08-13"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.5 mode:FullText source:FullText result:FullText" date="2010-04-07"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-09"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-16"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="426">426</numbering><numbering type="pageLast" number="431">431</numbering></numberingGroup><correspondenceTo> Alexander A. L. Jorge, Hospital das Clínicas, Labaratório de Hormonios, Av Dr Eneas de Carvalho Aguiar 155 PAMB, 2 andar Bloco 6, 05403‐900 São Paulo, Brazil. Tel.: +55 11 3069 7512; Fax: +55 11 3069 7519; E‐mail: <email>alexj@usp.br</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:CEN.CEN3234.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>(Received 10 December 2007; returned for revision 7 January 2008; finally revised 25 February 2008; accepted 28 February 2008)</unparsedEditorialHistory><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="4"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="36"></count><count type="wordTotal" number="3146"></count></countGroup><titleGroup><title type="main">Analysis of the <i>PTPN11</i> gene in idiopathic short stature children and Noonan syndrome patients</title><title type="shortAuthors"><i>L. V. Ferreira </i>et al.</title><title type="short">PTPN11 <i>in idiopathic short stature and Noonan syndrome</i></title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#aff-1-1"><personName><givenNames>Lize V.</givenNames><familyName>Ferreira</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#aff-1-1"><personName><givenNames>Silvia C. A. L.</givenNames><familyName>Souza</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#aff-1-1"><personName><givenNames>Luciana R.</givenNames><familyName>Montenegro</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#aff-1-1"><personName><givenNames>Alexsandra C.</givenNames><familyName>Malaquias</familyName></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#aff-1-1"><personName><givenNames>Ivo J. P.</givenNames><familyName>Arnhold</familyName></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#aff-1-1"><personName><givenNames>Berenice B.</givenNames><familyName>Mendonca</familyName></personName></creator><creator creatorRole="author" xml:id="cr7" affiliationRef="#aff-1-1"><personName><givenNames>Alexander A. L.</givenNames><familyName>Jorge</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="aff-1-1" countryCode="BR"><unparsedAffiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</unparsedAffiliation></affiliation></affiliationGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Summary</title><p><b>Background </b> Mutations in the <i>PTPN11</i> gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and <i>PTPN11</i> is a good candidate for involvement in the pathogenesis of ISS.</p><p><b>Objective </b> To evaluate the presence of mutations in <i>PTPN11</i> in ISS children who presented NS‐related signs and in well‐characterized NS patients.</p><p><b>Patients and methods </b> We studied 50 ISS children who presented at least two NS‐associated signs but did not fulfil the criteria for NS diagnosis. Forty‐nine NS patients diagnosed by the criteria of van der Burgt <i>et al</i>.<link href="#b3"><sup>3</sup></link> were used to assess the adequacy of these criteria to select patients for <i>PTPN11</i> mutation screening. The coding region of<i> PTPN11</i> was amplified by polymerase chain reaction (PCR), followed by direct sequencing.</p><p><b>Results </b> No mutations or polymorphisms were found in the coding region of the <i>PTPN11</i> gene in ISS children. Nineteen of the 49 NS patients (39%) presented mutations in <i>PTPN11</i>. No single characteristic enabled us to distinguish between NS patients with or without <i>PTPN11</i> mutations.</p><p><b>Conclusion </b> Considering that no mutations were found in the present cohort with NS‐related signs, it is unlikely that mutations would be found in unselected ISS children. The van der Burgt <i>et al</i>. criteria are adequate in attaining NS diagnosis and selecting patients for molecular studies. Mutations in the <i>PTPN11</i> gene are commonly involved in the pathogenesis of NS but are not a common cause of ISS.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>PTPN11 in idiopathic short stature and Noonan syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients</title></titleInfo><name type="personal"><namePart type="given">Lize V.</namePart><namePart type="family">Ferreira</namePart><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Silvia C. A. L.</namePart><namePart type="family">Souza</namePart><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Luciana R.</namePart><namePart type="family">Montenegro</namePart><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexsandra C.</namePart><namePart type="family">Malaquias</namePart><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ivo J. P.</namePart><namePart type="family">Arnhold</namePart><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Berenice B.</namePart><namePart type="family">Mendonca</namePart><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexander A. L.</namePart><namePart type="family">Jorge</namePart><affiliation>Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2008-09</dateIssued><edition>(Received 10 December 2007; returned for revision 7 January 2008; finally revised 25 February 2008; accepted 28 February 2008)</edition><copyrightDate encoding="w3cdtf">2008</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">4</extent><extent unit="references">36</extent><extent unit="words">3146</extent></physicalDescription><abstract>Background Mutations in the PTPN11 gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and PTPN11 is a good candidate for involvement in the pathogenesis of ISS.</abstract><abstract>Objective To evaluate the presence of mutations in PTPN11 in ISS children who presented NS‐related signs and in well‐characterized NS patients.</abstract><abstract>Patients and methods We studied 50 ISS children who presented at least two NS‐associated signs but did not fulfil the criteria for NS diagnosis. Forty‐nine NS patients diagnosed by the criteria of van der Burgt et al.3 were used to assess the adequacy of these criteria to select patients for PTPN11 mutation screening. The coding region of PTPN11 was amplified by polymerase chain reaction (PCR), followed by direct sequencing.</abstract><abstract>Results No mutations or polymorphisms were found in the coding region of the PTPN11 gene in ISS children. Nineteen of the 49 NS patients (39%) presented mutations in PTPN11. No single characteristic enabled us to distinguish between NS patients with or without PTPN11 mutations.</abstract><abstract>Conclusion Considering that no mutations were found in the present cohort with NS‐related signs, it is unlikely that mutations would be found in unselected ISS children. The van der Burgt et al. criteria are adequate in attaining NS diagnosis and selecting patients for molecular studies. Mutations in the PTPN11 gene are commonly involved in the pathogenesis of NS but are not a common cause of ISS.</abstract><relatedItem type="host"><titleInfo><title>Clinical Endocrinology</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0300-0664</identifier><identifier type="eISSN">1365-2265</identifier><identifier type="DOI">10.1111/(ISSN)1365-2265</identifier><identifier type="PublisherID">CEN</identifier><part><date>2008</date><detail type="volume"><caption>vol.</caption><number>69</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>426</start><end>431</end><total>6</total></extent></part></relatedItem><identifier type="istex">3806DDA45B15FB76C519D7D35106E53866CA4588</identifier><identifier type="DOI">10.1111/j.1365-2265.2008.03234.x</identifier><identifier type="ArticleID">CEN3234</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2008 The Authors. 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