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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>THOC2</italic> Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability</title><author><name sortKey="Kumar, Raman" sort="Kumar, Raman" uniqKey="Kumar R" first="Raman" last="Kumar">Raman Kumar</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Corbett, Mark A" sort="Corbett, Mark A" uniqKey="Corbett M" first="Mark A." last="Corbett">Mark A. Corbett</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Van Bon, Bregje W M" sort="Van Bon, Bregje W M" uniqKey="Van Bon B" first="Bregje W. M." last="Van Bon">Bregje W. M. Van Bon</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Woenig, Joshua A" sort="Woenig, Joshua A" uniqKey="Woenig J" first="Joshua A." last="Woenig">Joshua A. Woenig</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Weir, Lloyd" sort="Weir, Lloyd" uniqKey="Weir L" first="Lloyd" last="Weir">Lloyd Weir</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Douglas, Evelyn" sort="Douglas, Evelyn" uniqKey="Douglas E" first="Evelyn" last="Douglas">Evelyn Douglas</name><affiliation><nlm:aff id="aff3">Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="Friend, Kathryn L" sort="Friend, Kathryn L" uniqKey="Friend K" first="Kathryn L." last="Friend">Kathryn L. Friend</name><affiliation><nlm:aff id="aff3">Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="Gardner, Alison" sort="Gardner, Alison" uniqKey="Gardner A" first="Alison" last="Gardner">Alison Gardner</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Shaw, Marie" sort="Shaw, Marie" uniqKey="Shaw M" first="Marie" last="Shaw">Marie Shaw</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Jolly, Lachlan A" sort="Jolly, Lachlan A" uniqKey="Jolly L" first="Lachlan A." last="Jolly">Lachlan A. Jolly</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Tan, Chuan" sort="Tan, Chuan" uniqKey="Tan C" first="Chuan" last="Tan">Chuan Tan</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Hunter, Matthew F" sort="Hunter, Matthew F" uniqKey="Hunter M" first="Matthew F." last="Hunter">Matthew F. Hunter</name><affiliation><nlm:aff id="aff4">Monash Genetics, Monash Medical Centre, Clayton, VIC 3168, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Paediatrics, Monash University, Clayton, VIC 3168, Australia</nlm:aff></affiliation></author><author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name><affiliation><nlm:aff id="aff6">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name><affiliation><nlm:aff id="aff6">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="Palmer, Elizabeth E" sort="Palmer, Elizabeth E" uniqKey="Palmer E" first="Elizabeth E." last="Palmer">Elizabeth E. Palmer</name><affiliation><nlm:aff id="aff6">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="Leffler, Melanie" sort="Leffler, Melanie" uniqKey="Leffler M" first="Melanie" last="Leffler">Melanie Leffler</name><affiliation><nlm:aff id="aff6">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="Rogers, Carolyn" sort="Rogers, Carolyn" uniqKey="Rogers C" first="Carolyn" last="Rogers">Carolyn Rogers</name><affiliation><nlm:aff id="aff6">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="Boyle, Jackie" sort="Boyle, Jackie" uniqKey="Boyle J" first="Jackie" last="Boyle">Jackie Boyle</name><affiliation><nlm:aff id="aff6">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="Bienek, Melanie" sort="Bienek, Melanie" uniqKey="Bienek M" first="Melanie" last="Bienek">Melanie Bienek</name><affiliation><nlm:aff id="aff7">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Jensen, Corinna" sort="Jensen, Corinna" uniqKey="Jensen C" first="Corinna" last="Jensen">Corinna Jensen</name><affiliation><nlm:aff id="aff7">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Van Buggenhout, Griet" sort="Van Buggenhout, Griet" uniqKey="Van Buggenhout G" first="Griet" last="Van Buggenhout">Griet Van Buggenhout</name><affiliation><nlm:aff id="aff8">Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium</nlm:aff></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation><nlm:aff id="aff8">Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium</nlm:aff></affiliation></author><author><name sortKey="Hoffmann, Katrin" sort="Hoffmann, Katrin" uniqKey="Hoffmann K" first="Katrin" last="Hoffmann">Katrin Hoffmann</name><affiliation><nlm:aff id="aff9">Institute of Human Genetics, Martin Luther University Halle-Wittenberg, Magdeburger Strasse 2, 06112 Halle (Saale), Germany</nlm:aff></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation><nlm:aff id="aff10">INSERM U930, Imaging and Brain, François-Rabelais University, 37000 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">INSERM U930, Service de Génétique, Centre Hospitalier Régional Universitaire, 37000 Tours, France</nlm:aff></affiliation></author><author><name sortKey="Zhao, Huiying" sort="Zhao, Huiying" uniqKey="Zhao H" first="Huiying" last="Zhao">Huiying Zhao</name><affiliation><nlm:aff id="aff12">QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Reed, Robin" sort="Reed, Robin" uniqKey="Reed R" first="Robin" last="Reed">Robin Reed</name><affiliation><nlm:aff id="aff13">Department of Cell Biology, Harvard Medical School, Harvard University, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Hu, Hao" sort="Hu, Hao" uniqKey="Hu H" first="Hao" last="Hu">Hao Hu</name><affiliation><nlm:aff id="aff7">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Haas, Stefan A" sort="Haas, Stefan A" uniqKey="Haas S" first="Stefan A." last="Haas">Stefan A. Haas</name><affiliation><nlm:aff id="aff14">Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M." last="Kalscheuer">Vera M. Kalscheuer</name><affiliation><nlm:aff id="aff7">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff16">School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26166480</idno><idno type="pmc">4573269</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269</idno><idno type="RBID">PMC:4573269</idno><idno type="doi">10.1016/j.ajhg.2015.05.021</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">001215</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001215</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>THOC2</italic> Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability</title><author><name sortKey="Kumar, Raman" sort="Kumar, Raman" uniqKey="Kumar R" first="Raman" last="Kumar">Raman Kumar</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Corbett, Mark A" sort="Corbett, Mark A" uniqKey="Corbett M" first="Mark A." last="Corbett">Mark A. Corbett</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Van Bon, Bregje W M" sort="Van Bon, Bregje W M" uniqKey="Van Bon B" first="Bregje W. M." last="Van Bon">Bregje W. M. Van Bon</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Woenig, Joshua A" sort="Woenig, Joshua A" uniqKey="Woenig J" first="Joshua A." last="Woenig">Joshua A. Woenig</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Weir, Lloyd" sort="Weir, Lloyd" uniqKey="Weir L" first="Lloyd" last="Weir">Lloyd Weir</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Douglas, Evelyn" sort="Douglas, Evelyn" uniqKey="Douglas E" first="Evelyn" last="Douglas">Evelyn Douglas</name><affiliation><nlm:aff id="aff3">Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="Friend, Kathryn L" sort="Friend, Kathryn L" uniqKey="Friend K" first="Kathryn L." last="Friend">Kathryn L. Friend</name><affiliation><nlm:aff id="aff3">Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="Gardner, Alison" sort="Gardner, Alison" uniqKey="Gardner A" first="Alison" last="Gardner">Alison Gardner</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Shaw, Marie" sort="Shaw, Marie" uniqKey="Shaw M" first="Marie" last="Shaw">Marie Shaw</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Jolly, Lachlan A" sort="Jolly, Lachlan A" uniqKey="Jolly L" first="Lachlan A." last="Jolly">Lachlan A. Jolly</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Tan, Chuan" sort="Tan, Chuan" uniqKey="Tan C" first="Chuan" last="Tan">Chuan Tan</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Hunter, Matthew F" sort="Hunter, Matthew F" uniqKey="Hunter M" first="Matthew F." last="Hunter">Matthew F. Hunter</name><affiliation><nlm:aff id="aff4">Monash Genetics, Monash Medical Centre, Clayton, VIC 3168, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Paediatrics, Monash University, Clayton, VIC 3168, Australia</nlm:aff></affiliation></author><author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name><affiliation><nlm:aff id="aff6">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name><affiliation><nlm:aff id="aff6">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="Palmer, Elizabeth E" sort="Palmer, Elizabeth E" uniqKey="Palmer E" first="Elizabeth E." last="Palmer">Elizabeth E. Palmer</name><affiliation><nlm:aff id="aff6">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="Leffler, Melanie" sort="Leffler, Melanie" uniqKey="Leffler M" first="Melanie" last="Leffler">Melanie Leffler</name><affiliation><nlm:aff id="aff6">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="Rogers, Carolyn" sort="Rogers, Carolyn" uniqKey="Rogers C" first="Carolyn" last="Rogers">Carolyn Rogers</name><affiliation><nlm:aff id="aff6">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="Boyle, Jackie" sort="Boyle, Jackie" uniqKey="Boyle J" first="Jackie" last="Boyle">Jackie Boyle</name><affiliation><nlm:aff id="aff6">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="Bienek, Melanie" sort="Bienek, Melanie" uniqKey="Bienek M" first="Melanie" last="Bienek">Melanie Bienek</name><affiliation><nlm:aff id="aff7">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Jensen, Corinna" sort="Jensen, Corinna" uniqKey="Jensen C" first="Corinna" last="Jensen">Corinna Jensen</name><affiliation><nlm:aff id="aff7">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Van Buggenhout, Griet" sort="Van Buggenhout, Griet" uniqKey="Van Buggenhout G" first="Griet" last="Van Buggenhout">Griet Van Buggenhout</name><affiliation><nlm:aff id="aff8">Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium</nlm:aff></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation><nlm:aff id="aff8">Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium</nlm:aff></affiliation></author><author><name sortKey="Hoffmann, Katrin" sort="Hoffmann, Katrin" uniqKey="Hoffmann K" first="Katrin" last="Hoffmann">Katrin Hoffmann</name><affiliation><nlm:aff id="aff9">Institute of Human Genetics, Martin Luther University Halle-Wittenberg, Magdeburger Strasse 2, 06112 Halle (Saale), Germany</nlm:aff></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation><nlm:aff id="aff10">INSERM U930, Imaging and Brain, François-Rabelais University, 37000 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">INSERM U930, Service de Génétique, Centre Hospitalier Régional Universitaire, 37000 Tours, France</nlm:aff></affiliation></author><author><name sortKey="Zhao, Huiying" sort="Zhao, Huiying" uniqKey="Zhao H" first="Huiying" last="Zhao">Huiying Zhao</name><affiliation><nlm:aff id="aff12">QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Reed, Robin" sort="Reed, Robin" uniqKey="Reed R" first="Robin" last="Reed">Robin Reed</name><affiliation><nlm:aff id="aff13">Department of Cell Biology, Harvard Medical School, Harvard University, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Hu, Hao" sort="Hu, Hao" uniqKey="Hu H" first="Hao" last="Hu">Hao Hu</name><affiliation><nlm:aff id="aff7">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Haas, Stefan A" sort="Haas, Stefan A" uniqKey="Haas S" first="Stefan A." last="Haas">Stefan A. Haas</name><affiliation><nlm:aff id="aff14">Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M." last="Kalscheuer">Vera M. Kalscheuer</name><affiliation><nlm:aff id="aff7">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation><nlm:aff id="aff1">School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff16">School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Export of mRNA from the cell nucleus to the cytoplasm is essential for protein synthesis, a process vital to all living eukaryotic cells. mRNA export is highly conserved and ubiquitous. Mutations affecting mRNA and mRNA processing or export factors, which cause aberrant retention of mRNAs in the nucleus, are thus emerging as contributors to an important class of human genetic disorders. Here, we report that variants in <italic>THOC2</italic>, which encodes a subunit of the highly conserved TREX mRNA-export complex, cause syndromic intellectual disability (ID). Affected individuals presented with variable degrees of ID and commonly observed features included speech delay, elevated BMI, short stature, seizure disorders, gait disturbance, and tremors. X chromosome exome sequencing revealed four missense variants in <italic>THOC2</italic> in four families, including family MRX12, first ascertained in 1971. We show that two variants lead to decreased stability of THOC2 and its TREX-complex partners in cells derived from the affected individuals. Protein structural modeling showed that the altered amino acids are located in the RNA-binding domains of two complex THOC2 structures, potentially representing two different intermediate RNA-binding states of THOC2 during RNA transport. Our results show that disturbance of the canonical molecular pathway of mRNA export is compatible with life but results in altered neuronal development with other comorbidities.</p></div></front></TEI><pmc article-type="brief-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">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26166480</article-id><article-id pub-id-type="pmc">4573269</article-id><article-id pub-id-type="publisher-id">S0002-9297(15)00235-9</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2015.05.021</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title><italic>THOC2</italic> Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Kumar</surname><given-names>Raman</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Corbett</surname><given-names>Mark A.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>van Bon</surname><given-names>Bregje W.M.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Woenig</surname><given-names>Joshua A.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Weir</surname><given-names>Lloyd</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Douglas</surname><given-names>Evelyn</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Friend</surname><given-names>Kathryn L.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Gardner</surname><given-names>Alison</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Shaw</surname><given-names>Marie</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Jolly</surname><given-names>Lachlan A.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Tan</surname><given-names>Chuan</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Hunter</surname><given-names>Matthew F.</given-names></name><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Hackett</surname><given-names>Anna</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Field</surname><given-names>Michael</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Palmer</surname><given-names>Elizabeth E.</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Leffler</surname><given-names>Melanie</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Rogers</surname><given-names>Carolyn</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Boyle</surname><given-names>Jackie</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Bienek</surname><given-names>Melanie</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Jensen</surname><given-names>Corinna</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Van Buggenhout</surname><given-names>Griet</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Van Esch</surname><given-names>Hilde</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Hoffmann</surname><given-names>Katrin</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Raynaud</surname><given-names>Martine</given-names></name><xref rid="aff10" ref-type="aff">10</xref><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Zhao</surname><given-names>Huiying</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Reed</surname><given-names>Robin</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Hu</surname><given-names>Hao</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Haas</surname><given-names>Stefan A.</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Haan</surname><given-names>Eric</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Kalscheuer</surname><given-names>Vera M.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Gecz</surname><given-names>Jozef</given-names></name><email>jozef.gecz@adelaide.edu.au</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff16" ref-type="aff">16</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia</aff><aff id="aff2"><label>2</label>Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</aff><aff id="aff3"><label>3</label>Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia</aff><aff id="aff4"><label>4</label>Monash Genetics, Monash Medical Centre, Clayton, VIC 3168, Australia</aff><aff id="aff5"><label>5</label>Department of Paediatrics, Monash University, Clayton, VIC 3168, Australia</aff><aff id="aff6"><label>6</label>Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</aff><aff id="aff7"><label>7</label>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany</aff><aff id="aff8"><label>8</label>Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium</aff><aff id="aff9"><label>9</label>Institute of Human Genetics, Martin Luther University Halle-Wittenberg, Magdeburger Strasse 2, 06112 Halle (Saale), Germany</aff><aff id="aff10"><label>10</label>INSERM U930, Imaging and Brain, François-Rabelais University, 37000 Tours, France</aff><aff id="aff11"><label>11</label>INSERM U930, Service de Génétique, Centre Hospitalier Régional Universitaire, 37000 Tours, France</aff><aff id="aff12"><label>12</label>QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia</aff><aff id="aff13"><label>13</label>Department of Cell Biology, Harvard Medical School, Harvard University, Boston, MA 02115, USA</aff><aff id="aff14"><label>14</label>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany</aff><aff id="aff15"><label>15</label>South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia</aff><aff id="aff16"><label>16</label>School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>jozef.gecz@adelaide.edu.au</email></corresp></author-notes><pub-date pub-type="ppub"><day>06</day><month>8</month><year>2015</year></pub-date><volume>97</volume><issue>2</issue><fpage>302</fpage><lpage>310</lpage><history><date date-type="received"><day>20</day><month>2</month><year>2015</year></date><date date-type="accepted"><day>27</day><month>5</month><year>2015</year></date></history><permissions><copyright-statement>© 2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2015</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Export of mRNA from the cell nucleus to the cytoplasm is essential for protein synthesis, a process vital to all living eukaryotic cells. mRNA export is highly conserved and ubiquitous. Mutations affecting mRNA and mRNA processing or export factors, which cause aberrant retention of mRNAs in the nucleus, are thus emerging as contributors to an important class of human genetic disorders. Here, we report that variants in <italic>THOC2</italic>, which encodes a subunit of the highly conserved TREX mRNA-export complex, cause syndromic intellectual disability (ID). Affected individuals presented with variable degrees of ID and commonly observed features included speech delay, elevated BMI, short stature, seizure disorders, gait disturbance, and tremors. X chromosome exome sequencing revealed four missense variants in <italic>THOC2</italic> in four families, including family MRX12, first ascertained in 1971. We show that two variants lead to decreased stability of THOC2 and its TREX-complex partners in cells derived from the affected individuals. Protein structural modeling showed that the altered amino acids are located in the RNA-binding domains of two complex THOC2 structures, potentially representing two different intermediate RNA-binding states of THOC2 during RNA transport. Our results show that disturbance of the canonical molecular pathway of mRNA export is compatible with life but results in altered neuronal development with other comorbidities.</p></abstract></article-meta><notes><p id="misc0010">Published: July 9, 2015</p></notes></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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