SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
Identifieur interne : 000179 ( France/Analysis ); précédent : 000178; suivant : 000180SHANK3 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
Affiliations:
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Buxbaum</name><affiliation wicri:level="1"><nlm:aff id="I4">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</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>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</wicri:regionArea><wicri:noRegion>NY 10029</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23758743</idno><idno type="pmc">3695795</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695795</idno><idno type="RBID">PMC:3695795</idno><idno type="doi">10.1186/2040-2392-4-17</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002435</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002435</idno><idno type="wicri:Area/Pmc/Curation">002434</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002434</idno><idno type="wicri:Area/Pmc/Checkpoint">002578</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002578</idno><idno type="wicri:Area/Ncbi/Merge">005A15</idno><idno type="wicri:Area/Ncbi/Curation">005A15</idno><idno type="wicri:Area/Ncbi/Checkpoint">005A15</idno><idno type="wicri:Area/Main/Merge">003989</idno><idno type="wicri:Area/Main/Curation">003980</idno><idno type="wicri:Area/Main/Exploration">003980</idno><idno type="wicri:Area/France/Extraction">000179</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>SHANK3</italic> haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders</title><author><name sortKey="Betancur, Catalina" sort="Betancur, Catalina" uniqKey="Betancur C" first="Catalina" last="Betancur">Catalina Betancur</name><affiliation wicri:level="3"><nlm:aff id="I1">INSERM U952, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U952, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="I2">CNRS UMR 7224, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>CNRS UMR 7224, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="I3">Université Pierre et Marie Curie, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Pierre et Marie Curie, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></affiliation></author><author><name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D" last="Buxbaum">Joseph D. Buxbaum</name><affiliation wicri:level="1"><nlm:aff id="I4">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</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>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</wicri:regionArea><wicri:noRegion>NY 10029</wicri:noRegion></affiliation></author></analytic><series><title level="j">Molecular Autism</title><idno type="eISSN">2040-2392</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Betancur, C" uniqKey="Betancur C">C Betancur</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Durand, Cm" uniqKey="Durand C">CM Durand</name></author><author><name sortKey="Betancur, C" uniqKey="Betancur C">C Betancur</name></author><author><name sortKey="Boeckers, Tm" uniqKey="Boeckers T">TM Boeckers</name></author><author><name sortKey="Bockmann, J" uniqKey="Bockmann J">J Bockmann</name></author><author><name sortKey="Chaste, P" uniqKey="Chaste P">P Chaste</name></author><author><name sortKey="Fauchereau, F" uniqKey="Fauchereau F">F 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C">C Williams</name></author><author><name sortKey="Stalker, H" uniqKey="Stalker H">H Stalker</name></author><author><name sortKey="Hamid, R" uniqKey="Hamid R">R Hamid</name></author><author><name sortKey="Hannig, V" uniqKey="Hannig V">V Hannig</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gong, X" uniqKey="Gong X">X Gong</name></author><author><name sortKey="Jiang, Yw" uniqKey="Jiang Y">YW Jiang</name></author><author><name sortKey="Zhang, X" uniqKey="Zhang X">X Zhang</name></author><author><name sortKey="An, Y" uniqKey="An Y">Y An</name></author><author><name sortKey="Zhang, J" uniqKey="Zhang J">J Zhang</name></author><author><name sortKey="Wu, Y" uniqKey="Wu Y">Y Wu</name></author><author><name sortKey="Wang, J" uniqKey="Wang J">J Wang</name></author><author><name sortKey="Sun, Y" uniqKey="Sun Y">Y Sun</name></author><author><name sortKey="Liu, Y" uniqKey="Liu Y">Y Liu</name></author><author><name sortKey="Gao, X" uniqKey="Gao X">X Gao</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gauthier, J" uniqKey="Gauthier J">J Gauthier</name></author><author><name sortKey="Spiegelman, D" uniqKey="Spiegelman D">D Spiegelman</name></author><author><name sortKey="Piton, A" uniqKey="Piton A">A Piton</name></author><author><name sortKey="Lafreniere, Rg" uniqKey="Lafreniere R">RG Lafreniere</name></author><author><name sortKey="Laurent, S" uniqKey="Laurent S">S Laurent</name></author><author><name sortKey="St Onge, J" uniqKey="St Onge J">J St-Onge</name></author><author><name sortKey="Lapointe, L" uniqKey="Lapointe L">L Lapointe</name></author><author><name sortKey="Hamdan, Ff" uniqKey="Hamdan F">FF Hamdan</name></author><author><name sortKey="Cossette, P" uniqKey="Cossette P">P Cossette</name></author><author><name sortKey="Mottron, L" uniqKey="Mottron L">L Mottron</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schaaf, Cp" uniqKey="Schaaf C">CP Schaaf</name></author><author><name sortKey="Sabo, A" uniqKey="Sabo A">A Sabo</name></author><author><name sortKey="Sakai, Y" uniqKey="Sakai Y">Y Sakai</name></author><author><name sortKey="Crosby, J" uniqKey="Crosby J">J Crosby</name></author><author><name sortKey="Muzny, D" uniqKey="Muzny D">D Muzny</name></author><author><name sortKey="Hawes, A" uniqKey="Hawes A">A Hawes</name></author><author><name sortKey="Lewis, L" uniqKey="Lewis L">L Lewis</name></author><author><name sortKey="Akbar, H" uniqKey="Akbar H">H Akbar</name></author><author><name sortKey="Varghese, R" uniqKey="Varghese R">R Varghese</name></author><author><name sortKey="Boerwinkle, E" uniqKey="Boerwinkle E">E Boerwinkle</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Boccuto, L" uniqKey="Boccuto L">L Boccuto</name></author><author><name sortKey="Lauri, M" uniqKey="Lauri M">M Lauri</name></author><author><name sortKey="Sarasua, Sm" uniqKey="Sarasua S">SM Sarasua</name></author><author><name sortKey="Skinner, Cd" uniqKey="Skinner C">CD Skinner</name></author><author><name sortKey="Buccella, D" uniqKey="Buccella D">D Buccella</name></author><author><name sortKey="Dwivedi, A" uniqKey="Dwivedi A">A Dwivedi</name></author><author><name sortKey="Orteschi, D" uniqKey="Orteschi D">D Orteschi</name></author><author><name sortKey="Collins, Js" uniqKey="Collins J">JS Collins</name></author><author><name sortKey="Zollino, M" uniqKey="Zollino M">M Zollino</name></author><author><name sortKey="Visconti, P" uniqKey="Visconti P">P Visconti</name></author></analytic></biblStruct></listBibl></div1></back></TEI><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. 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