Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
Identifieur interne : 001E52 ( Pmc/Curation ); précédent : 001E51; suivant : 001E53Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
Auteurs : Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Antonella Mendola [Belgique] ; Pradeep Vasudevan [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Andreas Van Impel [Pays-Bas] ; Anthony T. Moore [Royaume-Uni] ; Bart L. Loeys [Belgique] ; Arash Ghalamkarpour [Belgique] ; Alexandros Onoufriadis [Royaume-Uni] ; Ines Martinez-Corral ; Sophie Devery [Royaume-Uni] ; Jules G. Leroy [Belgique] ; Lut Van Laer [Belgique] ; Amihood Singer [Israël] ; Martin G. Bialer [États-Unis] ; Meriel Mcentagart [Royaume-Uni] ; Oliver Quarrell [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Richard C. Trembath [Royaume-Uni] ; Stefan Schulte-Merker [Pays-Bas] ; Taija Makinen ; Miikka Vikkula [Belgique] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Steve Jeffery [Royaume-Uni]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2012.
Abstract
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DOI: 10.1016/j.ajhg.2011.12.018
PubMed: 22284827
PubMed Central: 3276660
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Ines Martinez-Corral<affiliation><nlm:aff id="aff9">Lymphatic Development Laboratory, Cancer Research UK London Research Institute, London WC2A 3PX, U</nlm:aff><wicri:noCountry code="subfield">U</wicri:noCountry></affiliation><affiliation><nlm:aff id="aff9">Lymphatic Development Laboratory, Cancer Research UK London Research Institute, London WC2A 3PX, U</nlm:aff><wicri:noCountry code="subfield">U</wicri:noCountry></affiliation>Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>KIF11</italic> Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy</title><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London SW17 0RE, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A." last="Simpson">Michael A. Simpson</name><affiliation wicri:level="1"><nlm:aff id="aff2">Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT</wicri:regionArea></affiliation></author><author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name><affiliation wicri:level="1"><nlm:aff id="aff3">Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Vasudevan, Pradeep" sort="Vasudevan, Pradeep" uniqKey="Vasudevan P" first="Pradeep" last="Vasudevan">Pradeep Vasudevan</name><affiliation wicri:level="1"><nlm:aff id="aff4">Clinical Genetics, University Hospitals of Leicester National Health Services Trust, Leicester Royal Infirmary, Leicester LE1 5WW, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics, University Hospitals of Leicester National Health Services Trust, Leicester Royal Infirmary, Leicester LE1 5WW</wicri:regionArea></affiliation></author><author><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C." last="Connell">Fiona C. Connell</name><affiliation wicri:level="1"><nlm:aff id="aff5">Clinical Genetics, Guy's and St. Thomas' National Health Services Foundation Trust, Guy's Hospital, London SE1 9RT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics, Guy's and St. Thomas' National Health Services Foundation Trust, Guy's Hospital, London SE1 9RT</wicri:regionArea></affiliation></author><author><name sortKey="Van Impel, Andreas" sort="Van Impel, Andreas" uniqKey="Van Impel A" first="Andreas" last="Van Impel">Andreas Van Impel</name><affiliation wicri:level="1"><nlm:aff id="aff6">Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, in collaboration with the Universitair Medisch Centrum Utrecht, 3584 CT Utrecht, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, in collaboration with the Universitair Medisch Centrum Utrecht, 3584 CT Utrecht</wicri:regionArea></affiliation></author><author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name><affiliation wicri:level="1"><nlm:aff id="aff7">University College London Institute of Ophthalmology, Moorfields Eye Hospital and Hospital for Children, London EC1V 2PD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London Institute of Ophthalmology, Moorfields Eye Hospital and Hospital for Children, London EC1V 2PD</wicri:regionArea></affiliation></author><author><name sortKey="Loeys, Bart L" sort="Loeys, Bart L" uniqKey="Loeys B" first="Bart L." last="Loeys">Bart L. Loeys</name><affiliation wicri:level="1"><nlm:aff id="aff8">Center for Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp</wicri:regionArea></affiliation></author><author><name sortKey="Ghalamkarpour, Arash" sort="Ghalamkarpour, Arash" uniqKey="Ghalamkarpour A" first="Arash" last="Ghalamkarpour">Arash Ghalamkarpour</name><affiliation wicri:level="1"><nlm:aff id="aff3">Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Onoufriadis, Alexandros" sort="Onoufriadis, Alexandros" uniqKey="Onoufriadis A" first="Alexandros" last="Onoufriadis">Alexandros Onoufriadis</name><affiliation wicri:level="1"><nlm:aff id="aff2">Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT</wicri:regionArea></affiliation></author><author><name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name><affiliation><nlm:aff id="aff9">Lymphatic Development Laboratory, Cancer Research UK London Research Institute, London WC2A 3PX, U</nlm:aff><wicri:noCountry code="subfield">U</wicri:noCountry></affiliation></author><author><name sortKey="Devery, Sophie" sort="Devery, Sophie" uniqKey="Devery S" first="Sophie" last="Devery">Sophie Devery</name><affiliation wicri:level="1"><nlm:aff id="aff10">Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD</wicri:regionArea></affiliation></author><author><name sortKey="Leroy, Jules G" sort="Leroy, Jules G" uniqKey="Leroy J" first="Jules G." last="Leroy">Jules G. Leroy</name><affiliation wicri:level="1"><nlm:aff id="aff11">C. Hooft Children's Hospital, Ghent University Hospital, B-9000 Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>C. Hooft Children's Hospital, Ghent University Hospital, B-9000 Ghent</wicri:regionArea></affiliation></author><author><name sortKey="Van Laer, Lut" sort="Van Laer, Lut" uniqKey="Van Laer L" first="Lut" last="Van Laer">Lut Van Laer</name><affiliation wicri:level="1"><nlm:aff id="aff8">Center for Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp</wicri:regionArea></affiliation></author><author><name sortKey="Singer, Amihood" sort="Singer, Amihood" uniqKey="Singer A" first="Amihood" last="Singer">Amihood Singer</name><affiliation wicri:level="1"><nlm:aff id="aff12">Pediatrics and Medical Genetics, Barzilai Medical Center, 78306 Ashkelon, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatrics and Medical Genetics, Barzilai Medical Center, 78306 Ashkelon</wicri:regionArea></affiliation></author><author><name sortKey="Bialer, Martin G" sort="Bialer, Martin G" uniqKey="Bialer M" first="Martin G." last="Bialer">Martin G. Bialer</name><affiliation wicri:level="1"><nlm:aff id="aff13">Division of Medical Genetics, North Shore-Long Island Jewish Health System, Manhasset, NY 11030, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, North Shore-Long Island Jewish Health System, Manhasset, NY 11030</wicri:regionArea></affiliation></author><author><name sortKey="Mcentagart, Meriel" sort="Mcentagart, Meriel" uniqKey="Mcentagart M" first="Meriel" last="Mcentagart">Meriel Mcentagart</name><affiliation wicri:level="1"><nlm:aff id="aff14">South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name><affiliation wicri:level="1"><nlm:aff id="aff15">Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="1"><nlm:aff id="aff14">South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Trembath, Richard C" sort="Trembath, Richard C" uniqKey="Trembath R" first="Richard C." last="Trembath">Richard C. Trembath</name><affiliation wicri:level="1"><nlm:aff id="aff2">Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT</wicri:regionArea></affiliation></author><author><name sortKey="Schulte Merker, Stefan" sort="Schulte Merker, Stefan" uniqKey="Schulte Merker S" first="Stefan" last="Schulte-Merker">Stefan Schulte-Merker</name><affiliation wicri:level="1"><nlm:aff id="aff6">Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, in collaboration with the Universitair Medisch Centrum Utrecht, 3584 CT Utrecht, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, in collaboration with the Universitair Medisch Centrum Utrecht, 3584 CT Utrecht</wicri:regionArea></affiliation></author><author><name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name><affiliation><nlm:aff id="aff9">Lymphatic Development Laboratory, Cancer Research UK London Research Institute, London WC2A 3PX, U</nlm:aff><wicri:noCountry code="subfield">U</wicri:noCountry></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation wicri:level="1"><nlm:aff id="aff3">Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff16">Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, B-1200 Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name><affiliation wicri:level="1"><nlm:aff id="aff17">Department of Cardiac and Vascular Sciences, St. George's University of London, London SW17 0RE, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardiac and Vascular Sciences, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="1"><nlm:aff id="aff14">South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London SW17 0RE, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22284827</idno><idno type="pmc">3276660</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276660</idno><idno type="RBID">PMC:3276660</idno><idno type="doi">10.1016/j.ajhg.2011.12.018</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001E53</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E53</idno><idno type="wicri:Area/Pmc/Curation">001E52</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001E52</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>KIF11</italic> Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy</title><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London SW17 0RE, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A." last="Simpson">Michael A. Simpson</name><affiliation wicri:level="1"><nlm:aff id="aff2">Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT</wicri:regionArea></affiliation></author><author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name><affiliation wicri:level="1"><nlm:aff id="aff3">Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Vasudevan, Pradeep" sort="Vasudevan, Pradeep" uniqKey="Vasudevan P" first="Pradeep" last="Vasudevan">Pradeep Vasudevan</name><affiliation wicri:level="1"><nlm:aff id="aff4">Clinical Genetics, University Hospitals of Leicester National Health Services Trust, Leicester Royal Infirmary, Leicester LE1 5WW, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics, University Hospitals of Leicester National Health Services Trust, Leicester Royal Infirmary, Leicester LE1 5WW</wicri:regionArea></affiliation></author><author><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C." last="Connell">Fiona C. Connell</name><affiliation wicri:level="1"><nlm:aff id="aff5">Clinical Genetics, Guy's and St. Thomas' National Health Services Foundation Trust, Guy's Hospital, London SE1 9RT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics, Guy's and St. Thomas' National Health Services Foundation Trust, Guy's Hospital, London SE1 9RT</wicri:regionArea></affiliation></author><author><name sortKey="Van Impel, Andreas" sort="Van Impel, Andreas" uniqKey="Van Impel A" first="Andreas" last="Van Impel">Andreas Van Impel</name><affiliation wicri:level="1"><nlm:aff id="aff6">Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, in collaboration with the Universitair Medisch Centrum Utrecht, 3584 CT Utrecht, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, in collaboration with the Universitair Medisch Centrum Utrecht, 3584 CT Utrecht</wicri:regionArea></affiliation></author><author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name><affiliation wicri:level="1"><nlm:aff id="aff7">University College London Institute of Ophthalmology, Moorfields Eye Hospital and Hospital for Children, London EC1V 2PD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London Institute of Ophthalmology, Moorfields Eye Hospital and Hospital for Children, London EC1V 2PD</wicri:regionArea></affiliation></author><author><name sortKey="Loeys, Bart L" sort="Loeys, Bart L" uniqKey="Loeys B" first="Bart L." last="Loeys">Bart L. Loeys</name><affiliation wicri:level="1"><nlm:aff id="aff8">Center for Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp</wicri:regionArea></affiliation></author><author><name sortKey="Ghalamkarpour, Arash" sort="Ghalamkarpour, Arash" uniqKey="Ghalamkarpour A" first="Arash" last="Ghalamkarpour">Arash Ghalamkarpour</name><affiliation wicri:level="1"><nlm:aff id="aff3">Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Onoufriadis, Alexandros" sort="Onoufriadis, Alexandros" uniqKey="Onoufriadis A" first="Alexandros" last="Onoufriadis">Alexandros Onoufriadis</name><affiliation wicri:level="1"><nlm:aff id="aff2">Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT</wicri:regionArea></affiliation></author><author><name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name><affiliation><nlm:aff id="aff9">Lymphatic Development Laboratory, Cancer Research UK London Research Institute, London WC2A 3PX, U</nlm:aff><wicri:noCountry code="subfield">U</wicri:noCountry></affiliation></author><author><name sortKey="Devery, Sophie" sort="Devery, Sophie" uniqKey="Devery S" first="Sophie" last="Devery">Sophie Devery</name><affiliation wicri:level="1"><nlm:aff id="aff10">Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD</wicri:regionArea></affiliation></author><author><name sortKey="Leroy, Jules G" sort="Leroy, Jules G" uniqKey="Leroy J" first="Jules G." last="Leroy">Jules G. Leroy</name><affiliation wicri:level="1"><nlm:aff id="aff11">C. Hooft Children's Hospital, Ghent University Hospital, B-9000 Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>C. Hooft Children's Hospital, Ghent University Hospital, B-9000 Ghent</wicri:regionArea></affiliation></author><author><name sortKey="Van Laer, Lut" sort="Van Laer, Lut" uniqKey="Van Laer L" first="Lut" last="Van Laer">Lut Van Laer</name><affiliation wicri:level="1"><nlm:aff id="aff8">Center for Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp</wicri:regionArea></affiliation></author><author><name sortKey="Singer, Amihood" sort="Singer, Amihood" uniqKey="Singer A" first="Amihood" last="Singer">Amihood Singer</name><affiliation wicri:level="1"><nlm:aff id="aff12">Pediatrics and Medical Genetics, Barzilai Medical Center, 78306 Ashkelon, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatrics and Medical Genetics, Barzilai Medical Center, 78306 Ashkelon</wicri:regionArea></affiliation></author><author><name sortKey="Bialer, Martin G" sort="Bialer, Martin G" uniqKey="Bialer M" first="Martin G." last="Bialer">Martin G. Bialer</name><affiliation wicri:level="1"><nlm:aff id="aff13">Division of Medical Genetics, North Shore-Long Island Jewish Health System, Manhasset, NY 11030, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, North Shore-Long Island Jewish Health System, Manhasset, NY 11030</wicri:regionArea></affiliation></author><author><name sortKey="Mcentagart, Meriel" sort="Mcentagart, Meriel" uniqKey="Mcentagart M" first="Meriel" last="Mcentagart">Meriel Mcentagart</name><affiliation wicri:level="1"><nlm:aff id="aff14">South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name><affiliation wicri:level="1"><nlm:aff id="aff15">Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="1"><nlm:aff id="aff14">South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Trembath, Richard C" sort="Trembath, Richard C" uniqKey="Trembath R" first="Richard C." last="Trembath">Richard C. Trembath</name><affiliation wicri:level="1"><nlm:aff id="aff2">Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT</wicri:regionArea></affiliation></author><author><name sortKey="Schulte Merker, Stefan" sort="Schulte Merker, Stefan" uniqKey="Schulte Merker S" first="Stefan" last="Schulte-Merker">Stefan Schulte-Merker</name><affiliation wicri:level="1"><nlm:aff id="aff6">Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, in collaboration with the Universitair Medisch Centrum Utrecht, 3584 CT Utrecht, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, in collaboration with the Universitair Medisch Centrum Utrecht, 3584 CT Utrecht</wicri:regionArea></affiliation></author><author><name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name><affiliation><nlm:aff id="aff9">Lymphatic Development Laboratory, Cancer Research UK London Research Institute, London WC2A 3PX, U</nlm:aff><wicri:noCountry code="subfield">U</wicri:noCountry></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation wicri:level="1"><nlm:aff id="aff3">Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff16">Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, B-1200 Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name><affiliation wicri:level="1"><nlm:aff id="aff17">Department of Cardiac and Vascular Sciences, St. George's University of London, London SW17 0RE, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardiac and Vascular Sciences, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="1"><nlm:aff id="aff14">South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE</wicri:regionArea></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London SW17 0RE, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London SW17 0RE</wicri:regionArea></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="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>We have identified <italic>KIF11</italic> mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous <italic>KIF11</italic> mutations in three individuals with a combination of microcephaly and lymphedema from a microcephaly-lymphedema-chorioretinal-dysplasia cohort. Subsequent Sanger sequencing of <italic>KIF11</italic> in a further 15 unrelated microcephalic probands with lymphedema and/or chorioretinopathy identified additional heterozygous mutations in 12 of them. <italic>KIF11</italic> encodes EG5, a homotetramer kinesin motor. The variety of mutations we have found (two nonsense, two splice site, four missense, and six indels causing frameshifts) are all predicted to have an impact on protein function. EG5 has previously been shown to play a role in spindle assembly and function, and these findings highlight the critical role of proteins necessary for spindle formation in CNS development. Moreover, identification of <italic>KIF11</italic> mutations in patients with chorioretinopathy and lymphedema suggests that EG5 is involved in the development and maintenance of retinal and lymphatic structures.</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">22284827</article-id><article-id pub-id-type="pmc">3276660</article-id><article-id pub-id-type="publisher-id">S0002-9297(11)00553-2</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2011.12.018</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Mutations in <italic>KIF11</italic> Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Ostergaard</surname><given-names>Pia</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Simpson</surname><given-names>Michael A.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Mendola</surname><given-names>Antonella</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Vasudevan</surname><given-names>Pradeep</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Connell</surname><given-names>Fiona C.</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>van Impel</surname><given-names>Andreas</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Moore</surname><given-names>Anthony T.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Loeys</surname><given-names>Bart L.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Ghalamkarpour</surname><given-names>Arash</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Onoufriadis</surname><given-names>Alexandros</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Martinez-Corral</surname><given-names>Ines</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Devery</surname><given-names>Sophie</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Leroy</surname><given-names>Jules G.</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>van Laer</surname><given-names>Lut</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Singer</surname><given-names>Amihood</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Bialer</surname><given-names>Martin G.</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>McEntagart</surname><given-names>Meriel</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Quarrell</surname><given-names>Oliver</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Brice</surname><given-names>Glen</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Trembath</surname><given-names>Richard C.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Schulte-Merker</surname><given-names>Stefan</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Makinen</surname><given-names>Taija</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Vikkula</surname><given-names>Miikka</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Mortimer</surname><given-names>Peter S.</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Mansour</surname><given-names>Sahar</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Jeffery</surname><given-names>Steve</given-names></name><email>sggt100@sgul.ac.uk</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London SW17 0RE, UK</aff><aff id="aff2"><label>2</label>Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK</aff><aff id="aff3"><label>3</label>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</aff><aff id="aff4"><label>4</label>Clinical Genetics, University Hospitals of Leicester National Health Services Trust, Leicester Royal Infirmary, Leicester LE1 5WW, UK</aff><aff id="aff5"><label>5</label>Clinical Genetics, Guy's and St. Thomas' National Health Services Foundation Trust, Guy's Hospital, London SE1 9RT, UK</aff><aff id="aff6"><label>6</label>Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, in collaboration with the Universitair Medisch Centrum Utrecht, 3584 CT Utrecht, Netherlands</aff><aff id="aff7"><label>7</label>University College London Institute of Ophthalmology, Moorfields Eye Hospital and Hospital for Children, London EC1V 2PD, UK</aff><aff id="aff8"><label>8</label>Center for Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp, Belgium</aff><aff id="aff9"><label>9</label>Lymphatic Development Laboratory, Cancer Research UK London Research Institute, London WC2A 3PX, U</aff><aff id="aff10"><label>10</label>Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK</aff><aff id="aff11"><label>11</label>C. Hooft Children's Hospital, Ghent University Hospital, B-9000 Ghent, Belgium</aff><aff id="aff12"><label>12</label>Pediatrics and Medical Genetics, Barzilai Medical Center, 78306 Ashkelon, Israel</aff><aff id="aff13"><label>13</label>Division of Medical Genetics, North Shore-Long Island Jewish Health System, Manhasset, NY 11030, USA</aff><aff id="aff14"><label>14</label>South West Thames Regional Genetics Service, St. George's University of London, London SW17 0RE, UK</aff><aff id="aff15"><label>15</label>Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK</aff><aff id="aff16"><label>16</label>Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, B-1200 Brussels, Belgium</aff><aff id="aff17"><label>17</label>Department of Cardiac and Vascular Sciences, St. George's University of London, London SW17 0RE, UK</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>sggt100@sgul.ac.uk</email></corresp></author-notes><pub-date pub-type="ppub"><day>10</day><month>2</month><year>2012</year></pub-date><volume>90</volume><issue>2</issue><fpage>356</fpage><lpage>362</lpage><history><date date-type="received"><day>30</day><month>9</month><year>2011</year></date><date date-type="rev-recd"><day>23</day><month>11</month><year>2011</year></date><date date-type="accepted"><day>26</day><month>12</month><year>2011</year></date></history><permissions><copyright-statement>© 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2012</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>We have identified <italic>KIF11</italic> mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous <italic>KIF11</italic> mutations in three individuals with a combination of microcephaly and lymphedema from a microcephaly-lymphedema-chorioretinal-dysplasia cohort. Subsequent Sanger sequencing of <italic>KIF11</italic> in a further 15 unrelated microcephalic probands with lymphedema and/or chorioretinopathy identified additional heterozygous mutations in 12 of them. <italic>KIF11</italic> encodes EG5, a homotetramer kinesin motor. The variety of mutations we have found (two nonsense, two splice site, four missense, and six indels causing frameshifts) are all predicted to have an impact on protein function. EG5 has previously been shown to play a role in spindle assembly and function, and these findings highlight the critical role of proteins necessary for spindle formation in CNS development. Moreover, identification of <italic>KIF11</italic> mutations in patients with chorioretinopathy and lymphedema suggests that EG5 is involved in the development and maintenance of retinal and lymphatic structures.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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