LymphedemaV1, Pmc, Corpus, bibRecord, 001074

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

Identifieur interne : 001074 ( Pmc/Corpus ); précédent : 001073; suivant : 001075

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

Auteurs : Ineke Van Der Burgt ; William Kupsky ; Stephani Stassou ; Ali Nadroo ; Cândida Barroso ; Angelika Diem ; Christian P. Kratz ; Radovan Dvorsky ; Mohammad Reza Ahmadian ; Martin Zenker

Source :

Journal of Medical Genetics [ 0022-2593 ] ; 2007.

RBID : PMC:2598013

Abstract

Background

Rare reports on patients with congenital myopathy with excess of muscle spindles (CMEMS), hypertrophic cardiomyopathy and variable features resembling Noonan syndrome have been published, but the genetic basis of this condition is so far unknown.

Methods and results

We analysed PTPN11 and RAS genes in five unrelated patients with this phenotype, and found HRAS mutations in four of them. Two disease‐associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. All four mutations are predicted to enhance downstream HRas signalling, suggesting that CMEMS is a developmental consequence of sustained HRas activation in skeletal muscle.

Conclusion

This type of myopathy may represent a previously unrecogned manifestation of CS. However, some patients carrying HRAS mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline HRAS mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2598013

DOI: 10.1136/jmg.2007.049270
PubMed: 17412879
PubMed Central: 2598013

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PMC:2598013

Le document en format XML

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 germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation</title>
<author><name sortKey="Van Der Burgt, Ineke" sort="Van Der Burgt, Ineke" uniqKey="Van Der Burgt I" first="Ineke" last="Van Der Burgt">Ineke Van Der Burgt</name>
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<author><name sortKey="Kupsky, William" sort="Kupsky, William" uniqKey="Kupsky W" first="William" last="Kupsky">William Kupsky</name>
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<author><name sortKey="Stassou, Stephani" sort="Stassou, Stephani" uniqKey="Stassou S" first="Stephani" last="Stassou">Stephani Stassou</name>
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<author><name sortKey="Nadroo, Ali" sort="Nadroo, Ali" uniqKey="Nadroo A" first="Ali" last="Nadroo">Ali Nadroo</name>
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<author><name sortKey="Barroso, Candida" sort="Barroso, Candida" uniqKey="Barroso C" first="Cândida" last="Barroso">Cândida Barroso</name>
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<author><name sortKey="Diem, Angelika" sort="Diem, Angelika" uniqKey="Diem A" first="Angelika" last="Diem">Angelika Diem</name>
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<author><name sortKey="Kratz, Christian P" sort="Kratz, Christian P" uniqKey="Kratz C" first="Christian P" last="Kratz">Christian P. Kratz</name>
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<author><name sortKey="Dvorsky, Radovan" sort="Dvorsky, Radovan" uniqKey="Dvorsky R" first="Radovan" last="Dvorsky">Radovan Dvorsky</name>
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<author><name sortKey="Ahmadian, Mohammad Reza" sort="Ahmadian, Mohammad Reza" uniqKey="Ahmadian M" first="Mohammad Reza" last="Ahmadian">Mohammad Reza Ahmadian</name>
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<author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Myopathy caused by <italic>HRAS</italic>
 germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation</title>
<author><name sortKey="Van Der Burgt, Ineke" sort="Van Der Burgt, Ineke" uniqKey="Van Der Burgt I" first="Ineke" last="Van Der Burgt">Ineke Van Der Burgt</name>
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<author><name sortKey="Kupsky, William" sort="Kupsky, William" uniqKey="Kupsky W" first="William" last="Kupsky">William Kupsky</name>
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<author><name sortKey="Stassou, Stephani" sort="Stassou, Stephani" uniqKey="Stassou S" first="Stephani" last="Stassou">Stephani Stassou</name>
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<author><name sortKey="Nadroo, Ali" sort="Nadroo, Ali" uniqKey="Nadroo A" first="Ali" last="Nadroo">Ali Nadroo</name>
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<author><name sortKey="Barroso, Candida" sort="Barroso, Candida" uniqKey="Barroso C" first="Cândida" last="Barroso">Cândida Barroso</name>
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<author><name sortKey="Diem, Angelika" sort="Diem, Angelika" uniqKey="Diem A" first="Angelika" last="Diem">Angelika Diem</name>
</author>
<author><name sortKey="Kratz, Christian P" sort="Kratz, Christian P" uniqKey="Kratz C" first="Christian P" last="Kratz">Christian P. Kratz</name>
</author>
<author><name sortKey="Dvorsky, Radovan" sort="Dvorsky, Radovan" uniqKey="Dvorsky R" first="Radovan" last="Dvorsky">Radovan Dvorsky</name>
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<author><name sortKey="Ahmadian, Mohammad Reza" sort="Ahmadian, Mohammad Reza" uniqKey="Ahmadian M" first="Mohammad Reza" last="Ahmadian">Mohammad Reza Ahmadian</name>
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<author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
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<series><title level="j">Journal of Medical Genetics</title>
<idno type="ISSN">0022-2593</idno>
<idno type="eISSN">1468-6244</idno>
<imprint><date when="2007">2007</date>
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<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>Rare reports on patients with congenital myopathy with excess of muscle spindles (CMEMS), hypertrophic cardiomyopathy and variable features resembling Noonan syndrome have been published, but the genetic basis of this condition is so far unknown.</p>
</sec>
<sec><title>Methods and results</title>
<p>We analysed <italic>PTPN11</italic>
 and <italic>RAS</italic>
 genes in five unrelated patients with this phenotype, and found <italic>HRAS</italic>
 mutations in four of them. Two disease‐associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. All four mutations are predicted to enhance downstream HRas signalling, suggesting that CMEMS is a developmental consequence of sustained HRas activation in skeletal muscle.</p>
</sec>
<sec><title>Conclusion</title>
<p>This type of myopathy may represent a previously unrecogned manifestation of CS. However, some patients carrying <italic>HRAS</italic>
 mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline <italic>HRAS</italic>
 mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders.</p>
</sec>
</div>
</front>
</TEI>
<pmc article-type="case-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
  <front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id>
<journal-title>Journal of Medical Genetics</journal-title>
<issn pub-type="ppub">0022-2593</issn>
<issn pub-type="epub">1468-6244</issn>
<publisher><publisher-name>BMJ Group</publisher-name>
</publisher>
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<article-meta><article-id pub-id-type="pmid">17412879</article-id>
<article-id pub-id-type="pmc">2598013</article-id>
<article-id pub-id-type="publisher-id">mg49270</article-id>
<article-id pub-id-type="doi">10.1136/jmg.2007.049270</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Letter to JMG</subject>
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</article-categories>
<title-group><article-title>Myopathy caused by <italic>HRAS</italic>
 germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>van der Burgt</surname>
<given-names>Ineke</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Kupsky</surname>
<given-names>William</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Stassou</surname>
<given-names>Stephani</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Nadroo</surname>
<given-names>Ali</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Barroso</surname>
<given-names>Cândida</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Diem</surname>
<given-names>Angelika</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Kratz</surname>
<given-names>Christian P</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Dvorsky</surname>
<given-names>Radovan</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Ahmadian</surname>
<given-names>Mohammad Reza</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Zenker</surname>
<given-names>Martin</given-names>
</name>
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</contrib-group>
<aff><bold>Ineke van der Burgt</bold>
, Department of Human Genetics, University Medical Center St Radboud, Nijmegen, The Netherlands</aff>
<aff><bold>William Kupsky</bold>
, Department of Pathology, Wayne State University, Harper Hospital, Detroit, USA</aff>
<aff><bold>Stephani Stassou</bold>
,<bold>Ali Nadroo</bold>
, Department of Pediatrics, New York Methodist Hospital, Brooklyn, USA</aff>
<aff><bold>Cândida Barroso</bold>
, Department of Neurology and Laboratory of Neuropathology, Hospital de Santa Maria, Lisbon, Portugal</aff>
<aff><bold>Angelika Diem</bold>
,<bold>Martin Zenker</bold>
, Institute of Human Genetics, University of Erlangen‐Nuremberg, Germany</aff>
<aff><bold>Christian P Kratz</bold>
, Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Germany</aff>
<aff><bold>Radovan Dvorsky</bold>
,<bold>Mohammad Reza Ahmadian</bold>
, Max‐Planck‐Institute of Molecular Physiology, Department of Structural Biology, Dortmund, Germany</aff>
<aff><bold>Mohammad Reza Ahmadian</bold>
, Institute of Biochemistry and Molecular Biology II, Heinrich‐Heine‐University Hospital, Düsseldorf, Germany</aff>
<author-notes><corresp>Correspondence to: Martin Zenker<break></break>
Institute of Human Genetics, University of Erlangen‐Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany; mzenker@humgenet.uni‐erlangen.de</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>7</month>
<year>2007</year>
</pub-date>
<pub-date pub-type="epub"><day>5</day>
<month>4</month>
<year>2007</year>
</pub-date>
<volume>44</volume>
<issue>7</issue>
<fpage>459</fpage>
<lpage>462</lpage>
<history><date date-type="received"><day>16</day>
<month>1</month>
<year>2007</year>
</date>
<date date-type="rev-recd"><day>13</day>
<month>3</month>
<year>2007</year>
</date>
<date date-type="accepted"><day>19</day>
<month>3</month>
<year>2007</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2007 BMJ Publishing Group Ltd</copyright-statement>
</permissions>
<abstract><sec><title>Background</title>
<p>Rare reports on patients with congenital myopathy with excess of muscle spindles (CMEMS), hypertrophic cardiomyopathy and variable features resembling Noonan syndrome have been published, but the genetic basis of this condition is so far unknown.</p>
</sec>
<sec><title>Methods and results</title>
<p>We analysed <italic>PTPN11</italic>
 and <italic>RAS</italic>
 genes in five unrelated patients with this phenotype, and found <italic>HRAS</italic>
 mutations in four of them. Two disease‐associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. All four mutations are predicted to enhance downstream HRas signalling, suggesting that CMEMS is a developmental consequence of sustained HRas activation in skeletal muscle.</p>
</sec>
<sec><title>Conclusion</title>
<p>This type of myopathy may represent a previously unrecogned manifestation of CS. However, some patients carrying <italic>HRAS</italic>
 mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline <italic>HRAS</italic>
 mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders.</p>
</sec>
</abstract>
<kwd-group><kwd>HRAS</kwd>
<kwd>costello syndrome</kwd>
<kwd>noonan syndrome</kwd>
<kwd>myopathy</kwd>
<kwd>muscle spindle</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>

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Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

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Abstract

Links to Exploration step

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