LymphedemaV1, Main, Exploration, bibRecord, 004094

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Identifieur interne : 004094 ( Main/Exploration ); précédent : 004093; suivant : 004095

Mutations 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.

RBID : PMC:3276660

Descripteurs français

KwdFr :
- Cholestase (génétique), Dysplasie rétinienne (génétique), Exome, Faciès, Femelle, Humains, Hétérozygote, Kinésine (génétique), Lymphoedème (), Lymphoedème (génétique), Malformations (génétique), Malformations multiples (génétique), Microcéphalie (génétique), Mutation, Mâle, Pedigree, Phénotype, Études de cohortes.
MESH :
- génétique : Cholestase, Dysplasie rétinienne, Kinésine, Lymphoedème, Malformations, Malformations multiples, Microcéphalie.
- Exome, Faciès, Femelle, Humains, Hétérozygote, Lymphoedème, Mutation, Mâle, Pedigree, Phénotype, Études de cohortes.

English descriptors

KwdEn :
- Abnormalities, Multiple (genetics), Cholestasis (genetics), Cohort Studies, Congenital Abnormalities (genetics), Exome, Facies, Female, Heterozygote, Humans, Kinesin (genetics), Lymphedema (congenital), Lymphedema (genetics), Male, Microcephaly (genetics), Mutation, Pedigree, Phenotype, Retinal Dysplasia (genetics).
MESH :
- chemical , genetics : Kinesin.
- congenital : Lymphedema.
- genetics : Abnormalities, Multiple, Cholestasis, Congenital Abnormalities, Lymphedema, Microcephaly, Retinal Dysplasia.
- Cohort Studies, Exome, Facies, Female, Heterozygote, Humans, Male, Mutation, Pedigree, Phenotype.

Abstract

We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema from a microcephaly-lymphedema-chorioretinal-dysplasia cohort. Subsequent Sanger sequencing of KIF11 in a further 15 unrelated microcephalic probands with lymphedema and/or chorioretinopathy identified additional heterozygous mutations in 12 of them. KIF11 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 KIF11 mutations in patients with chorioretinopathy and lymphedema suggests that EG5 is involved in the development and maintenance of retinal and lymphatic structures.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276660

DOI: 10.1016/j.ajhg.2011.12.018
PubMed: 22284827
PubMed Central: 3276660

Affiliations:

Le document en format XML

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 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy</title>
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<author><name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name>
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<author><name sortKey="Leroy, Jules G" sort="Leroy, Jules G" uniqKey="Leroy J" first="Jules G." last="Leroy">Jules G. Leroy</name>
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<country xml:lang="fr">Pays-Bas</country>
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<author><name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name>
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<affiliation wicri:level="4"><nlm:aff id="aff16">Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff>
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<author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name>
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<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
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<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<affiliation wicri:level="4"><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>
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<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="4"><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>
<orgName type="university">Université de Londres</orgName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
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</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>
<wicri:noRegion>London SE1 9RT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name>
<affiliation wicri:level="4"><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>
<orgName type="university">Université catholique de Louvain</orgName>
<placeName><settlement type="city">Louvain-la-Neuve</settlement>
<region type="region" nuts="1">Région wallonne</region>
<region type="province" nuts="1">Province du Brabant wallon</region>
</placeName>
</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>
<wicri:noRegion>Leicester LE1 5WW</wicri:noRegion>
</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>
<wicri:noRegion>London SE1 9RT</wicri:noRegion>
</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>
<wicri:noRegion>3584 CT Utrecht</wicri:noRegion>
</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>
<wicri:noRegion>London EC1V 2PD</wicri:noRegion>
</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>
<wicri:noRegion>B-2650 Antwerp</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ghalamkarpour, Arash" sort="Ghalamkarpour, Arash" uniqKey="Ghalamkarpour A" first="Arash" last="Ghalamkarpour">Arash Ghalamkarpour</name>
<affiliation wicri:level="4"><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>
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<region type="province" nuts="1">Province du Brabant wallon</region>
</placeName>
</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>
<wicri:noRegion>London SE1 9RT</wicri:noRegion>
</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>
<wicri:noRegion>London EC1V 2PD</wicri:noRegion>
</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>
<wicri:noRegion>B-9000 Ghent</wicri:noRegion>
</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>
<wicri:noRegion>B-2650 Antwerp</wicri:noRegion>
</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>
<wicri:noRegion>78306 Ashkelon</wicri:noRegion>
</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>
<wicri:noRegion>NY 11030</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mcentagart, Meriel" sort="Mcentagart, Meriel" uniqKey="Mcentagart M" first="Meriel" last="Mcentagart">Meriel Mcentagart</name>
<affiliation wicri:level="4"><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>
<orgName type="university">Université de Londres</orgName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</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>
<wicri:noRegion>Sheffield S10 2TH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<affiliation wicri:level="4"><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>
<orgName type="university">Université de Londres</orgName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</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>
<wicri:noRegion>London SE1 9RT</wicri:noRegion>
</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>
<wicri:noRegion>3584 CT Utrecht</wicri:noRegion>
</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="4"><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>
<orgName type="university">Université catholique de Louvain</orgName>
<placeName><settlement type="city">Louvain-la-Neuve</settlement>
<region type="region" nuts="1">Région wallonne</region>
<region type="province" nuts="1">Province du Brabant wallon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><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>
<orgName type="university">Université catholique de Louvain</orgName>
<placeName><settlement type="city">Louvain-la-Neuve</settlement>
<region type="region" nuts="1">Région wallonne</region>
<region type="province" nuts="1">Province du Brabant wallon</region>
</placeName>
</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="4"><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>
<orgName type="university">Université de Londres</orgName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<affiliation wicri:level="4"><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>
<orgName type="university">Université de Londres</orgName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<affiliation wicri:level="4"><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>
<orgName type="university">Université de Londres</orgName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</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>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term>
<term>Cholestasis (genetics)</term>
<term>Cohort Studies</term>
<term>Congenital Abnormalities (genetics)</term>
<term>Exome</term>
<term>Facies</term>
<term>Female</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Kinesin (genetics)</term>
<term>Lymphedema (congenital)</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Microcephaly (genetics)</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Retinal Dysplasia (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Cholestase (génétique)</term>
<term>Dysplasie rétinienne (génétique)</term>
<term>Exome</term>
<term>Faciès</term>
<term>Femelle</term>
<term>Humains</term>
<term>Hétérozygote</term>
<term>Kinésine (génétique)</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (génétique)</term>
<term>Malformations (génétique)</term>
<term>Malformations multiples (génétique)</term>
<term>Microcéphalie (génétique)</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Phénotype</term>
<term>Études de cohortes</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Kinesin</term>
</keywords>
<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Cholestasis</term>
<term>Congenital Abnormalities</term>
<term>Lymphedema</term>
<term>Microcephaly</term>
<term>Retinal Dysplasia</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Cholestase</term>
<term>Dysplasie rétinienne</term>
<term>Kinésine</term>
<term>Lymphoedème</term>
<term>Malformations</term>
<term>Malformations multiples</term>
<term>Microcéphalie</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Cohort Studies</term>
<term>Exome</term>
<term>Facies</term>
<term>Female</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Exome</term>
<term>Faciès</term>
<term>Femelle</term>
<term>Humains</term>
<term>Hétérozygote</term>
<term>Lymphoedème</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Phénotype</term>
<term>Études de cohortes</term>
</keywords>
</textClass>
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<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>
<affiliations><list><country><li>Belgique</li>
<li>Israël</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
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<li>Région wallonne</li>
</region>
<settlement><li>Londres</li>
<li>Louvain-la-Neuve</li>
</settlement>
<orgName><li>Université catholique de Louvain</li>
<li>Université de Londres</li>
</orgName>
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<tree><noCountry><name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name>
<name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name>
</noCountry>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
</region>
<name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C." last="Connell">Fiona C. Connell</name>
<name sortKey="Devery, Sophie" sort="Devery, Sophie" uniqKey="Devery S" first="Sophie" last="Devery">Sophie Devery</name>
<name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<name sortKey="Mcentagart, Meriel" sort="Mcentagart, Meriel" uniqKey="Mcentagart M" first="Meriel" last="Mcentagart">Meriel Mcentagart</name>
<name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name>
<name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name>
<name sortKey="Onoufriadis, Alexandros" sort="Onoufriadis, Alexandros" uniqKey="Onoufriadis A" first="Alexandros" last="Onoufriadis">Alexandros Onoufriadis</name>
<name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name>
<name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A." last="Simpson">Michael A. Simpson</name>
<name sortKey="Trembath, Richard C" sort="Trembath, Richard C" uniqKey="Trembath R" first="Richard C." last="Trembath">Richard C. Trembath</name>
<name sortKey="Vasudevan, Pradeep" sort="Vasudevan, Pradeep" uniqKey="Vasudevan P" first="Pradeep" last="Vasudevan">Pradeep Vasudevan</name>
</country>
<country name="Belgique"><region name="Région wallonne"><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name>
</region>
<name sortKey="Ghalamkarpour, Arash" sort="Ghalamkarpour, Arash" uniqKey="Ghalamkarpour A" first="Arash" last="Ghalamkarpour">Arash Ghalamkarpour</name>
<name sortKey="Leroy, Jules G" sort="Leroy, Jules G" uniqKey="Leroy J" first="Jules G." last="Leroy">Jules G. Leroy</name>
<name sortKey="Loeys, Bart L" sort="Loeys, Bart L" uniqKey="Loeys B" first="Bart L." last="Loeys">Bart L. Loeys</name>
<name sortKey="Van Laer, Lut" sort="Van Laer, Lut" uniqKey="Van Laer L" first="Lut" last="Van Laer">Lut Van Laer</name>
<name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
<name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
</country>
<country name="Pays-Bas"><noRegion><name sortKey="Van Impel, Andreas" sort="Van Impel, Andreas" uniqKey="Van Impel A" first="Andreas" last="Van Impel">Andreas Van Impel</name>
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<name sortKey="Schulte Merker, Stefan" sort="Schulte Merker, Stefan" uniqKey="Schulte Merker S" first="Stefan" last="Schulte-Merker">Stefan Schulte-Merker</name>
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<country name="Israël"><noRegion><name sortKey="Singer, Amihood" sort="Singer, Amihood" uniqKey="Singer A" first="Amihood" last="Singer">Amihood Singer</name>
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</country>
<country name="États-Unis"><noRegion><name sortKey="Bialer, Martin G" sort="Bialer, Martin G" uniqKey="Bialer M" first="Martin G." last="Bialer">Martin G. Bialer</name>
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</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004094 | SxmlIndent | more

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{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:3276660
   |texte=   Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:22284827" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

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Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
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