MovDisordV3, Ncbi, Merge, bibRecord, 001F85

Large deletions account for an increasing number of mutations in SGCE.

Identifieur interne : 001F85 ( Ncbi/Merge ); précédent : 001F84; suivant : 001F86

Large deletions account for an increasing number of mutations in SGCE.

Auteurs : Fabin Han [Canada] ; Lemuel Racacho ; Howard Yang ; Tara Read ; Oksana Suchowersky ; Anthony E. Lang ; David A. Grimes ; Dennis E. Bulman

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.

RBID : pubmed:18098280

English descriptors

KwdEn :
- Adolescent, Child, Child, Preschool, Dystonia (complications), Dystonia (genetics), Exons (genetics), Female, Gene Dosage, Humans, Infant, Male, Myoclonus (complications), Myoclonus (genetics), Sarcoglycans (genetics), Sequence Deletion.
MESH :
- chemical , genetics : Sarcoglycans.
- complications : Dystonia, Myoclonus.
- genetics : Dystonia, Exons, Myoclonus.
- Adolescent, Child, Child, Preschool, Female, Gene Dosage, Humans, Infant, Male, Sequence Deletion.

Abstract

Myoclonus-dystonia (M-D) (MIM 159900) is a rare "dystonia plus" syndrome, characterized by rapid myoclonic jerks, predominantly in the neck and upper limbs, in combination with dystonia. Mutations in the gene epsilon-sarcoglycan (SGCE) are known to be responsible for approximately one-third of cases. We screened 21 probands diagnosed with M-D for large deletions who were mutation negative as determined by PCR-direct sequencing. Multiplex PCR and quantification of PCR products was performed using a modified application of denaturing high performance liquid chromatography (dHPLC). We have identified two novel large multiexonic deletions of SGCE, which were confirmed by amplifying and sequencing the deletion breakpoints. Five other families were found to harbor small mutations identified by direct sequencing. Analysis of the region surrounding the deletions demonstrates that both deletions are the result of nonhomologous recombination with homologous end joining. This is only the second report of intragenic deletions with SGCE and it highlights the need to include exonic copy number variation when performing mutational analysis of SGCE.

DOI: 10.1002/mds.21895
PubMed: 18098280

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Le document en format XML

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<author><name sortKey="Han, Fabin" sort="Han, Fabin" uniqKey="Han F" first="Fabin" last="Han">Fabin Han</name>
<affiliation wicri:level="1"><nlm:affiliation>Ottawa Health Research Institute, Ottawa, Ontario, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Ottawa Health Research Institute, Ottawa, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Racacho, Lemuel" sort="Racacho, Lemuel" uniqKey="Racacho L" first="Lemuel" last="Racacho">Lemuel Racacho</name>
</author>
<author><name sortKey="Yang, Howard" sort="Yang, Howard" uniqKey="Yang H" first="Howard" last="Yang">Howard Yang</name>
</author>
<author><name sortKey="Read, Tara" sort="Read, Tara" uniqKey="Read T" first="Tara" last="Read">Tara Read</name>
</author>
<author><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name>
</author>
<author><name sortKey="Grimes, David A" sort="Grimes, David A" uniqKey="Grimes D" first="David A" last="Grimes">David A. Grimes</name>
</author>
<author><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E" last="Bulman">Dennis E. Bulman</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Large deletions account for an increasing number of mutations in SGCE.</title>
<author><name sortKey="Han, Fabin" sort="Han, Fabin" uniqKey="Han F" first="Fabin" last="Han">Fabin Han</name>
<affiliation wicri:level="1"><nlm:affiliation>Ottawa Health Research Institute, Ottawa, Ontario, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Ottawa Health Research Institute, Ottawa, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
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<author><name sortKey="Racacho, Lemuel" sort="Racacho, Lemuel" uniqKey="Racacho L" first="Lemuel" last="Racacho">Lemuel Racacho</name>
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<author><name sortKey="Yang, Howard" sort="Yang, Howard" uniqKey="Yang H" first="Howard" last="Yang">Howard Yang</name>
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<author><name sortKey="Read, Tara" sort="Read, Tara" uniqKey="Read T" first="Tara" last="Read">Tara Read</name>
</author>
<author><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name>
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<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name>
</author>
<author><name sortKey="Grimes, David A" sort="Grimes, David A" uniqKey="Grimes D" first="David A" last="Grimes">David A. Grimes</name>
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<author><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E" last="Bulman">Dennis E. Bulman</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2008" type="published">2008</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Dystonia (complications)</term>
<term>Dystonia (genetics)</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Gene Dosage</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Myoclonus (complications)</term>
<term>Myoclonus (genetics)</term>
<term>Sarcoglycans (genetics)</term>
<term>Sequence Deletion</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sarcoglycans</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonia</term>
<term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Exons</term>
<term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Female</term>
<term>Gene Dosage</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Sequence Deletion</term>
</keywords>
</textClass>
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</teiHeader>
<front><div type="abstract" xml:lang="en">Myoclonus-dystonia (M-D) (MIM 159900) is a rare "dystonia plus" syndrome, characterized by rapid myoclonic jerks, predominantly in the neck and upper limbs, in combination with dystonia. Mutations in the gene epsilon-sarcoglycan (SGCE) are known to be responsible for approximately one-third of cases. We screened 21 probands diagnosed with M-D for large deletions who were mutation negative as determined by PCR-direct sequencing. Multiplex PCR and quantification of PCR products was performed using a modified application of denaturing high performance liquid chromatography (dHPLC). We have identified two novel large multiexonic deletions of SGCE, which were confirmed by amplifying and sequencing the deletion breakpoints. Five other families were found to harbor small mutations identified by direct sequencing. Analysis of the region surrounding the deletions demonstrates that both deletions are the result of nonhomologous recombination with homologous end joining. This is only the second report of intragenic deletions with SGCE and it highlights the need to include exonic copy number variation when performing mutational analysis of SGCE.</div>
</front>
</TEI>
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<DateCreated><Year>2008</Year>
<Month>03</Month>
<Day>04</Day>
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<DateCompleted><Year>2008</Year>
<Month>05</Month>
<Day>08</Day>
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<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>23</Volume>
<Issue>3</Issue>
<PubDate><Year>2008</Year>
<Month>Feb</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Large deletions account for an increasing number of mutations in SGCE.</ArticleTitle>
<Pagination><MedlinePgn>456-60</MedlinePgn>
</Pagination>
<Abstract><AbstractText>Myoclonus-dystonia (M-D) (MIM 159900) is a rare "dystonia plus" syndrome, characterized by rapid myoclonic jerks, predominantly in the neck and upper limbs, in combination with dystonia. Mutations in the gene epsilon-sarcoglycan (SGCE) are known to be responsible for approximately one-third of cases. We screened 21 probands diagnosed with M-D for large deletions who were mutation negative as determined by PCR-direct sequencing. Multiplex PCR and quantification of PCR products was performed using a modified application of denaturing high performance liquid chromatography (dHPLC). We have identified two novel large multiexonic deletions of SGCE, which were confirmed by amplifying and sequencing the deletion breakpoints. Five other families were found to harbor small mutations identified by direct sequencing. Analysis of the region surrounding the deletions demonstrates that both deletions are the result of nonhomologous recombination with homologous end joining. This is only the second report of intragenic deletions with SGCE and it highlights the need to include exonic copy number variation when performing mutational analysis of SGCE.</AbstractText>
<CopyrightInformation>2008 Movement Disorder Society</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Han</LastName>
<ForeName>Fabin</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>Ottawa Health Research Institute, Ottawa, Ontario, Canada.</Affiliation>
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<Author ValidYN="Y"><LastName>Racacho</LastName>
<ForeName>Lemuel</ForeName>
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<Author ValidYN="Y"><LastName>Yang</LastName>
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<Author ValidYN="Y"><LastName>Read</LastName>
<ForeName>Tara</ForeName>
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<Author ValidYN="Y"><LastName>Suchowersky</LastName>
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<Author ValidYN="Y"><LastName>Lang</LastName>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C526572">SGCE protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D049031">Sarcoglycans</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004421">Dystonia</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D018628">Gene Dosage</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D007223">Infant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009207">Myoclonus</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D049031">Sarcoglycans</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D017384">Sequence Deletion</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
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<tree><noCountry><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E" last="Bulman">Dennis E. Bulman</name>
<name sortKey="Grimes, David A" sort="Grimes, David A" uniqKey="Grimes D" first="David A" last="Grimes">David A. Grimes</name>
<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name>
<name sortKey="Racacho, Lemuel" sort="Racacho, Lemuel" uniqKey="Racacho L" first="Lemuel" last="Racacho">Lemuel Racacho</name>
<name sortKey="Read, Tara" sort="Read, Tara" uniqKey="Read T" first="Tara" last="Read">Tara Read</name>
<name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name>
<name sortKey="Yang, Howard" sort="Yang, Howard" uniqKey="Yang H" first="Howard" last="Yang">Howard Yang</name>
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<country name="Canada"><noRegion><name sortKey="Han, Fabin" sort="Han, Fabin" uniqKey="Han F" first="Fabin" last="Han">Fabin Han</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Large deletions account for an increasing number of mutations in SGCE.

Large deletions account for an increasing number of mutations in SGCE.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki