Rare deleterious mutations of the gene EFR3A in autism spectrum disorders
Identifieur interne : 001777 ( Main/Exploration ); précédent : 001776; suivant : 001778Rare deleterious mutations of the gene EFR3A in autism spectrum disorders
Auteurs : Abha R. Gupta [États-Unis] ; Michelle Pirruccello [États-Unis] ; Feng Cheng [États-Unis] ; Hyo Jung Kang [États-Unis, Corée du Sud] ; Thomas V. Fernandez [États-Unis] ; Jeremy M. Baskin [États-Unis] ; Murim Choi [États-Unis] ; Li Liu [États-Unis] ; Adife Gulhan Ercan-Sencicek [États-Unis] ; John D. Murdoch [États-Unis] ; Lambertus Klei [États-Unis] ; Benjamin M. Neale [États-Unis] ; Daniel Franjic [États-Unis] ; Mark J. Daly [États-Unis] ; Richard P. Lifton [États-Unis] ; Pietro De Camilli [États-Unis] ; Hongyu Zhao [États-Unis] ; Nenad Šestan [États-Unis] ; Matthew W. State [États-Unis]Source :
- Molecular Autism [ 2040-2392 ] ; 2014.
Abstract
Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified
We conducted a large case/control association study by deep resequencing and analysis of whole-exome data for coding and splice site variants in
Rare nonsynonymous mutations in
Rare deleterious mutations in
Url:
DOI: 10.1186/2040-2392-5-31
PubMed: 24860643
PubMed Central: 4032628
Affiliations:
- Corée du Sud, États-Unis
- Californie, Connecticut, Floride, Massachusetts, Pennsylvanie, Région capitale de Séoul
- Pittsburgh, Séoul, Tampa
- Université Carnegie-Mellon, Université de Floride du Sud
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Le document en format XML
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<author><name sortKey="Neale, Benjamin M" sort="Neale, Benjamin M" uniqKey="Neale B" first="Benjamin M" last="Neale">Benjamin M. Neale</name>
<affiliation wicri:level="2"><nlm:aff id="I13">Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Franjic, Daniel" sort="Franjic, Daniel" uniqKey="Franjic D" first="Daniel" last="Franjic">Daniel Franjic</name>
<affiliation wicri:level="2"><nlm:aff id="I3">Department of Neurobiology, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06520, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurobiology, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06520</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J" last="Daly">Mark J. Daly</name>
<affiliation wicri:level="2"><nlm:aff id="I13">Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lifton, Richard P" sort="Lifton, Richard P" uniqKey="Lifton R" first="Richard P" last="Lifton">Richard P. Lifton</name>
<affiliation wicri:level="2"><nlm:aff id="I8">Department of Genetics, Howard Hughes Medical Institute, Yale School of Medicine, New Haven, CT 06520, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Howard Hughes Medical Institute, Yale School of Medicine, New Haven, CT 06520</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="De Camilli, Pietro" sort="De Camilli, Pietro" uniqKey="De Camilli P" first="Pietro" last="De Camilli">Pietro De Camilli</name>
<affiliation wicri:level="2"><nlm:aff id="I7">Department of Cell Biology, Howard Hughes Medical Institute, Program in Cellular Neuroscience Neurodegeneration and Repair, Yale School of Medicine, New Haven, CT 06520, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Cell Biology, Howard Hughes Medical Institute, Program in Cellular Neuroscience Neurodegeneration and Repair, Yale School of Medicine, New Haven, CT 06520</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zhao, Hongyu" sort="Zhao, Hongyu" uniqKey="Zhao H" first="Hongyu" last="Zhao">Hongyu Zhao</name>
<affiliation wicri:level="2"><nlm:aff id="I14">Departments of Biostatistics and Genetics, Yale School of Medicine, New Haven, CT 06520, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Departments of Biostatistics and Genetics, Yale School of Medicine, New Haven, CT 06520</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sestan, Nenad" sort="Sestan, Nenad" uniqKey="Sestan N" first="Nenad" last="Šestan">Nenad Šestan</name>
<affiliation wicri:level="2"><nlm:aff id="I3">Department of Neurobiology, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06520, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurobiology, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06520</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="State, Matthew W" sort="State, Matthew W" uniqKey="State M" first="Matthew W" last="State">Matthew W. State</name>
<affiliation wicri:level="2"><nlm:aff id="I15">Department of Psychiatry, University of California San Francisco, San Francisco, CA 94143, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of California San Francisco, San Francisco, CA 94143</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Molecular Autism</title>
<idno type="eISSN">2040-2392</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified <italic>de novo</italic>
mutations in novel candidate genes, including the synaptic gene <italic>Eighty-five Requiring 3A (EFR3A)</italic>
. EFR3A is a critical component of a protein complex required for the synthesis of the phosphoinositide PtdIns4P, which has a variety of functions at the neural synapse. We hypothesized that deleterious mutations in <italic>EFR3A</italic>
would be significantly associated with ASD.</p>
</sec>
<sec><title>Methods</title>
<p>We conducted a large case/control association study by deep resequencing and analysis of whole-exome data for coding and splice site variants in <italic>EFR3A</italic>
. We determined the potential impact of these variants on protein structure and function by a variety of conservation measures and analysis of the <italic>Saccharomyces cerevisiae</italic>
Efr3 crystal structure. We also analyzed the expression pattern of <italic>EFR3A</italic>
in human brain tissue.</p>
</sec>
<sec><title>Results</title>
<p>Rare nonsynonymous mutations in <italic>EFR3A</italic>
were more common among cases (16 / 2,196 = 0.73%) than matched controls (12 / 3,389 = 0.35%) and were statistically more common at conserved nucleotides based on an experiment-wide significance threshold (<italic>P</italic>
= 0.0077, permutation test). Crystal structure analysis revealed that mutations likely to be deleterious were also statistically more common in cases than controls (<italic>P</italic>
= 0.017, Fisher exact test). Furthermore, <italic>EFR3A</italic>
is expressed in cortical neurons, including pyramidal neurons, during human fetal brain development in a pattern consistent with ASD-related genes, and it is strongly co-expressed (<italic>P</italic>
< 2.2 × 10<sup>−16</sup>
, Wilcoxon test) with a module of genes significantly associated with ASD.</p>
</sec>
<sec><title>Conclusions</title>
<p>Rare deleterious mutations in <italic>EFR3A</italic>
were found to be associated with ASD using an experiment-wide significance threshold. Synaptic phosphoinositide metabolism has been strongly implicated in syndromic forms of ASD. These data for <italic>EFR3A</italic>
strengthen the evidence for the involvement of this pathway in idiopathic autism.</p>
</sec>
</div>
</front>
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</author>
<author><name sortKey="Campbell, Db" uniqKey="Campbell D">DB Campbell</name>
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</analytic>
</biblStruct>
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<author><name sortKey="Eagleson, Kl" uniqKey="Eagleson K">KL Eagleson</name>
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</TEI>
<affiliations><list><country><li>Corée du Sud</li>
<li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Connecticut</li>
<li>Floride</li>
<li>Massachusetts</li>
<li>Pennsylvanie</li>
<li>Région capitale de Séoul</li>
</region>
<settlement><li>Pittsburgh</li>
<li>Séoul</li>
<li>Tampa</li>
</settlement>
<orgName><li>Université Carnegie-Mellon</li>
<li>Université de Floride du Sud</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Connecticut"><name sortKey="Gupta, Abha R" sort="Gupta, Abha R" uniqKey="Gupta A" first="Abha R" last="Gupta">Abha R. Gupta</name>
</region>
<name sortKey="Baskin, Jeremy M" sort="Baskin, Jeremy M" uniqKey="Baskin J" first="Jeremy M" last="Baskin">Jeremy M. Baskin</name>
<name sortKey="Cheng, Feng" sort="Cheng, Feng" uniqKey="Cheng F" first="Feng" last="Cheng">Feng Cheng</name>
<name sortKey="Cheng, Feng" sort="Cheng, Feng" uniqKey="Cheng F" first="Feng" last="Cheng">Feng Cheng</name>
<name sortKey="Choi, Murim" sort="Choi, Murim" uniqKey="Choi M" first="Murim" last="Choi">Murim Choi</name>
<name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J" last="Daly">Mark J. Daly</name>
<name sortKey="De Camilli, Pietro" sort="De Camilli, Pietro" uniqKey="De Camilli P" first="Pietro" last="De Camilli">Pietro De Camilli</name>
<name sortKey="Ercan Sencicek, Adife Gulhan" sort="Ercan Sencicek, Adife Gulhan" uniqKey="Ercan Sencicek A" first="Adife Gulhan" last="Ercan-Sencicek">Adife Gulhan Ercan-Sencicek</name>
<name sortKey="Fernandez, Thomas V" sort="Fernandez, Thomas V" uniqKey="Fernandez T" first="Thomas V" last="Fernandez">Thomas V. Fernandez</name>
<name sortKey="Franjic, Daniel" sort="Franjic, Daniel" uniqKey="Franjic D" first="Daniel" last="Franjic">Daniel Franjic</name>
<name sortKey="Kang, Hyo Jung" sort="Kang, Hyo Jung" uniqKey="Kang H" first="Hyo Jung" last="Kang">Hyo Jung Kang</name>
<name sortKey="Klei, Lambertus" sort="Klei, Lambertus" uniqKey="Klei L" first="Lambertus" last="Klei">Lambertus Klei</name>
<name sortKey="Lifton, Richard P" sort="Lifton, Richard P" uniqKey="Lifton R" first="Richard P" last="Lifton">Richard P. Lifton</name>
<name sortKey="Liu, Li" sort="Liu, Li" uniqKey="Liu L" first="Li" last="Liu">Li Liu</name>
<name sortKey="Murdoch, John D" sort="Murdoch, John D" uniqKey="Murdoch J" first="John D" last="Murdoch">John D. Murdoch</name>
<name sortKey="Neale, Benjamin M" sort="Neale, Benjamin M" uniqKey="Neale B" first="Benjamin M" last="Neale">Benjamin M. Neale</name>
<name sortKey="Pirruccello, Michelle" sort="Pirruccello, Michelle" uniqKey="Pirruccello M" first="Michelle" last="Pirruccello">Michelle Pirruccello</name>
<name sortKey="Sestan, Nenad" sort="Sestan, Nenad" uniqKey="Sestan N" first="Nenad" last="Šestan">Nenad Šestan</name>
<name sortKey="State, Matthew W" sort="State, Matthew W" uniqKey="State M" first="Matthew W" last="State">Matthew W. State</name>
<name sortKey="Zhao, Hongyu" sort="Zhao, Hongyu" uniqKey="Zhao H" first="Hongyu" last="Zhao">Hongyu Zhao</name>
</country>
<country name="Corée du Sud"><region name="Région capitale de Séoul"><name sortKey="Kang, Hyo Jung" sort="Kang, Hyo Jung" uniqKey="Kang H" first="Hyo Jung" last="Kang">Hyo Jung Kang</name>
</region>
</country>
</tree>
</affiliations>
</record>
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