SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
Identifieur interne : 005A15 ( Ncbi/Merge ); précédent : 005A14; suivant : 005A16SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
Auteurs : Catalina Betancur [France] ; Joseph D. Buxbaum [États-Unis]Source :
- Molecular Autism [ 2040-2392 ] ; 2013.
Abstract
Autism spectrum disorders (ASD) are etiologically heterogeneous, with hundreds of rare, highly penetrant mutations and genomic imbalances involved, each contributing to a very small fraction of cases. In this issue of
Url:
DOI: 10.1186/2040-2392-4-17
PubMed: 23758743
PubMed Central: 3695795
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haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders</title>
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haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders</title>
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<series><title level="j">Molecular Autism</title>
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<front><div type="abstract" xml:lang="en"><p>Autism spectrum disorders (ASD) are etiologically heterogeneous, with hundreds of rare, highly penetrant mutations and genomic imbalances involved, each contributing to a very small fraction of cases. In this issue of <italic>Molecular Autism</italic>
, Soorya and colleagues evaluated 32 patients with Phelan-McDermid syndrome, caused by either deletion of 22q13.33 or <italic>SHANK3</italic>
mutations, using gold-standard diagnostic assessments and showed that 84% met criteria for ASD, including 75% meeting criteria for autism. This study and prior studies demonstrate that this syndrome appears to be one of the more penetrant causes of ASD. In this companion review, we show that in samples ascertained for ASD, <italic>SHANK3</italic>
haploinsufficiency is one of the more prevalent monogenic causes of ASD, explaining at least 0.5% of cases. We note that <italic>SHANK3</italic>
haploinsufficiency remains underdiagnosed in ASD and developmental delay, although with the increasingly widespread use of chromosomal microarray analysis and targeted sequencing of <italic>SHANK3</italic>
, the number of cases is bound to rise.</p>
</div>
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<pmc article-type="editorial" xml:lang="en"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Mol Autism</journal-id>
<journal-id journal-id-type="iso-abbrev">Mol Autism</journal-id>
<journal-title-group><journal-title>Molecular Autism</journal-title>
</journal-title-group>
<issn pub-type="epub">2040-2392</issn>
<publisher><publisher-name>BioMed Central</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">23758743</article-id>
<article-id pub-id-type="pmc">3695795</article-id>
<article-id pub-id-type="publisher-id">2040-2392-4-17</article-id>
<article-id pub-id-type="doi">10.1186/2040-2392-4-17</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Editorial</subject>
</subj-group>
</article-categories>
<title-group><article-title><italic>SHANK3</italic>
haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes" id="A1"><name><surname>Betancur</surname>
<given-names>Catalina</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<xref ref-type="aff" rid="I2">2</xref>
<xref ref-type="aff" rid="I3">3</xref>
<email>Catalina.Betancur@inserm.fr</email>
</contrib>
<contrib contrib-type="author" id="A2"><name><surname>Buxbaum</surname>
<given-names>Joseph D</given-names>
</name>
<xref ref-type="aff" rid="I4">4</xref>
<email>joseph.buxbaum@mssm.edu</email>
</contrib>
</contrib-group>
<aff id="I1"><label>1</label>
INSERM U952, Paris, France</aff>
<aff id="I2"><label>2</label>
CNRS UMR 7224, Paris, France</aff>
<aff id="I3"><label>3</label>
Université Pierre et Marie Curie, Paris, France</aff>
<aff id="I4"><label>4</label>
Seaver Autism Center for Research and Treatment, Departments of Psychiatry, Neuroscience, and Genetics and Genomic Sciences, Friedman Brain Institute, and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA</aff>
<pub-date pub-type="collection"><year>2013</year>
</pub-date>
<pub-date pub-type="epub"><day>11</day>
<month>6</month>
<year>2013</year>
</pub-date>
<volume>4</volume>
<fpage>17</fpage>
<lpage>17</lpage>
<history><date date-type="received"><day>24</day>
<month>5</month>
<year>2013</year>
</date>
<date date-type="accepted"><day>29</day>
<month>5</month>
<year>2013</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2013 Betancur and Buxbaum; licensee BioMed Central Ltd.</copyright-statement>
<copyright-year>2013</copyright-year>
<copyright-holder>Betancur and Buxbaum; licensee BioMed Central Ltd.</copyright-holder>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/2.0"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/2.0">http://creativecommons.org/licenses/by/2.0</ext-link>
), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p>
</license>
</permissions>
<self-uri xlink:href="http://www.molecularautism.com/content/4/1/17"></self-uri>
<abstract><p>Autism spectrum disorders (ASD) are etiologically heterogeneous, with hundreds of rare, highly penetrant mutations and genomic imbalances involved, each contributing to a very small fraction of cases. In this issue of <italic>Molecular Autism</italic>
, Soorya and colleagues evaluated 32 patients with Phelan-McDermid syndrome, caused by either deletion of 22q13.33 or <italic>SHANK3</italic>
mutations, using gold-standard diagnostic assessments and showed that 84% met criteria for ASD, including 75% meeting criteria for autism. This study and prior studies demonstrate that this syndrome appears to be one of the more penetrant causes of ASD. In this companion review, we show that in samples ascertained for ASD, <italic>SHANK3</italic>
haploinsufficiency is one of the more prevalent monogenic causes of ASD, explaining at least 0.5% of cases. We note that <italic>SHANK3</italic>
haploinsufficiency remains underdiagnosed in ASD and developmental delay, although with the increasingly widespread use of chromosomal microarray analysis and targeted sequencing of <italic>SHANK3</italic>
, the number of cases is bound to rise.</p>
</abstract>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>France</li>
<li>États-Unis</li>
</country>
<region><li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
</settlement>
<orgName><li>Université Pierre-et-Marie-Curie</li>
</orgName>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Betancur, Catalina" sort="Betancur, Catalina" uniqKey="Betancur C" first="Catalina" last="Betancur">Catalina Betancur</name>
</region>
<name sortKey="Betancur, Catalina" sort="Betancur, Catalina" uniqKey="Betancur C" first="Catalina" last="Betancur">Catalina Betancur</name>
<name sortKey="Betancur, Catalina" sort="Betancur, Catalina" uniqKey="Betancur C" first="Catalina" last="Betancur">Catalina Betancur</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D" last="Buxbaum">Joseph D. Buxbaum</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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