Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
Identifieur interne : 006006 ( Ncbi/Merge ); précédent : 006005; suivant : 006007Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
Auteurs : Gabriela E. Jones [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Anthony T. Moore [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Denise Williams [Royaume-Uni] ; Oliver Quarrell [Royaume-Uni] ; Angela F. Brady [Royaume-Uni] ; Isabel Spier [Allemagne] ; Filiz Hazan [Turquie] ; Oana Moldovan [Portugal] ; Dagmar Wieczorek [Allemagne] ; Barbara Mikat [Allemagne] ; Florence Petit [France] ; Christine Coubes [France] ; Robert A. Saul [États-Unis] ; Glen Brice [Royaume-Uni] ; Kristiana Gordon [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Pradeep C. Vasudevan [Royaume-Uni] ; Sahar Mansour [Royaume-Uni]Source :
- European Journal of Human Genetics [ 1018-4813 ] ; 2013.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Déficience intellectuelle, Kinésine, Lymphoedème, Microcéphalie, Rétinopathies.
- Famille, Femelle, Humains, Mutation, Mâle, Phénotype, Pénétrance, Études de cohortes.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Kinesin.
- genetics : Intellectual Disability, Lymphedema, Microcephaly, Retinal Diseases.
- Cohort Studies, Family, Female, Humans, Male, Mutation, Penetrance, Phenotype.
Abstract
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. Mutations in the kinesin family member 11 (
Url:
DOI: 10.1038/ejhg.2013.263
PubMed: 24281367
PubMed Central: 3938398
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PMC:3938398Le document en format XML
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Jones</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>, Leicester,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><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="aff2"><institution>Human Genetics Research Centre, Biomedical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T" last="Moore">Anthony T. 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Mortimer</name><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Vasudevan, Pradeep C" sort="Vasudevan, Pradeep C" uniqKey="Vasudevan P" first="Pradeep C" last="Vasudevan">Pradeep C. Vasudevan</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>, Leicester,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff15"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24281367</idno><idno type="pmc">3938398</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938398</idno><idno type="RBID">PMC:3938398</idno><idno type="doi">10.1038/ejhg.2013.263</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">000045</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000045</idno><idno type="wicri:Area/Pmc/Curation">000045</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000045</idno><idno type="wicri:Area/Pmc/Checkpoint">002154</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002154</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">001804</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001804</idno><idno type="wicri:Area/PubMed/Curation">001804</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001804</idno><idno type="wicri:Area/PubMed/Checkpoint">001804</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001804</idno><idno type="wicri:Area/Ncbi/Merge">006006</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with <italic>KIF11</italic> mutations</title><author><name sortKey="Jones, Gabriela E" sort="Jones, Gabriela E" uniqKey="Jones G" first="Gabriela E" last="Jones">Gabriela E. Jones</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>, Leicester,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><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="aff2"><institution>Human Genetics Research Centre, Biomedical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff3"><institution>Moorfields Eye Hospital</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff4"><institution>Clinical Genetics Department, Guys and St Thomas' Hospital</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Clinical Genetics Department, Birmingham Women's Hospital</institution>, Birmingham,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff6"><institution>Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust</institution>, Sheffield,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Brady, Angela F" sort="Brady, Angela F" uniqKey="Brady A" first="Angela F" last="Brady">Angela F. Brady</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Spier, Isabel" sort="Spier, Isabel" uniqKey="Spier I" first="Isabel" last="Spier">Isabel Spier</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Institute of Human Genetics, University of Bonn</institution>, Bonn,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hazan, Filiz" sort="Hazan, Filiz" uniqKey="Hazan F" first="Filiz" last="Hazan">Filiz Hazan</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Medical Genetics, Dr Behçet Uz Children's Hospital</institution>, Izmir,<country>Turkey</country></nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Moldovan, Oana" sort="Moldovan, Oana" uniqKey="Moldovan O" first="Oana" last="Moldovan">Oana Moldovan</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Serviço de Genética Médica, Hospital Santa Maria</institution>, Lisbon,<country>Portugal</country></nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen</institution>, Essen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mikat, Barbara" sort="Mikat, Barbara" uniqKey="Mikat B" first="Barbara" last="Mikat">Barbara Mikat</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen</institution>, Essen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France</institution>, Lille,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Department of Medical Genetics, Arnaud de Villeneuve's Hospital</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Saul, Robert A" sort="Saul, Robert A" uniqKey="Saul R" first="Robert A" last="Saul">Robert A. Saul</name><affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA)</institution>, Greenville, SC,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</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="aff15"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff2"><institution>Human Genetics Research Centre, Biomedical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Vasudevan, Pradeep C" sort="Vasudevan, Pradeep C" uniqKey="Vasudevan P" first="Pradeep C" last="Vasudevan">Pradeep C. Vasudevan</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>, Leicester,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff15"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">European Journal of Human Genetics</title><idno type="ISSN">1018-4813</idno><idno type="eISSN">1476-5438</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cohort Studies</term><term>Family</term><term>Female</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Kinesin (genetics)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Microcephaly (genetics)</term><term>Mutation</term><term>Penetrance</term><term>Phenotype</term><term>Retinal Diseases (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Déficience intellectuelle (génétique)</term><term>Famille</term><term>Femelle</term><term>Humains</term><term>Kinésine (génétique)</term><term>Lymphoedème (génétique)</term><term>Microcéphalie (génétique)</term><term>Mutation</term><term>Mâle</term><term>Phénotype</term><term>Pénétrance</term><term>Rétinopathies (génétique)</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="genetics" xml:lang="en"><term>Intellectual Disability</term><term>Lymphedema</term><term>Microcephaly</term><term>Retinal Diseases</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term><term>Kinésine</term><term>Lymphoedème</term><term>Microcéphalie</term><term>Rétinopathies</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Cohort Studies</term><term>Family</term><term>Female</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Penetrance</term><term>Phenotype</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Famille</term><term>Femelle</term><term>Humains</term><term>Mutation</term><term>Mâle</term><term>Phénotype</term><term>Pénétrance</term><term>Études de cohortes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. Mutations in the kinesin family member 11 (<italic>KIF11</italic>) gene have now been described in 16 families worldwide. This is a review of the condition based on the clinical features of 37 individuals from 22 families. This report includes nine previously unreported families and additional information for some of those reported previously. The condition arose <italic>de novo</italic> in 8/20 families (40%). The parental results were not available for two probands. The mutations were varied and include missense, nonsense, frameshift, and splice site and are distributed evenly throughout the <italic>KIF11</italic> gene. In our cohort, 86% had microcephaly, 78% had an ocular abnormality consistent with the diagnosis, 46% had lymphoedema, 73% had mild-moderate learning difficulties, 8% had epilepsy, and 8% had a cardiac anomaly. We identified three individuals with <italic>KIF11</italic> mutations but no clinical features of MCLMR demonstrating reduced penetrance. The variable expression of the phenotype and the presence of mildly affected individuals indicates that the prevalence may be higher than expected, and we would therefore recommend a low threshold for genetic testing.</p></div></front></TEI><double pmid="24281367"><pmc><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with <italic>KIF11</italic> mutations</title><author><name sortKey="Jones, Gabriela E" sort="Jones, Gabriela E" uniqKey="Jones G" first="Gabriela E" last="Jones">Gabriela E. Jones</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>, Leicester,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><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="aff2"><institution>Human Genetics Research Centre, Biomedical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff3"><institution>Moorfields Eye Hospital</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff4"><institution>Clinical Genetics Department, Guys and St Thomas' Hospital</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Clinical Genetics Department, Birmingham Women's Hospital</institution>, Birmingham,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff6"><institution>Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust</institution>, Sheffield,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Brady, Angela F" sort="Brady, Angela F" uniqKey="Brady A" first="Angela F" last="Brady">Angela F. Brady</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Spier, Isabel" sort="Spier, Isabel" uniqKey="Spier I" first="Isabel" last="Spier">Isabel Spier</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Institute of Human Genetics, University of Bonn</institution>, Bonn,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hazan, Filiz" sort="Hazan, Filiz" uniqKey="Hazan F" first="Filiz" last="Hazan">Filiz Hazan</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Medical Genetics, Dr Behçet Uz Children's Hospital</institution>, Izmir,<country>Turkey</country></nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Moldovan, Oana" sort="Moldovan, Oana" uniqKey="Moldovan O" first="Oana" last="Moldovan">Oana Moldovan</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Serviço de Genética Médica, Hospital Santa Maria</institution>, Lisbon,<country>Portugal</country></nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen</institution>, Essen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mikat, Barbara" sort="Mikat, Barbara" uniqKey="Mikat B" first="Barbara" last="Mikat">Barbara Mikat</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen</institution>, Essen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France</institution>, Lille,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Department of Medical Genetics, Arnaud de Villeneuve's Hospital</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Saul, Robert A" sort="Saul, Robert A" uniqKey="Saul R" first="Robert A" last="Saul">Robert A. Saul</name><affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA)</institution>, Greenville, SC,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</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="aff15"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff2"><institution>Human Genetics Research Centre, Biomedical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Vasudevan, Pradeep C" sort="Vasudevan, Pradeep C" uniqKey="Vasudevan P" first="Pradeep C" last="Vasudevan">Pradeep C. Vasudevan</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>, Leicester,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff15"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24281367</idno><idno type="pmc">3938398</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938398</idno><idno type="RBID">PMC:3938398</idno><idno type="doi">10.1038/ejhg.2013.263</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">000045</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000045</idno><idno type="wicri:Area/Pmc/Curation">000045</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000045</idno><idno type="wicri:Area/Pmc/Checkpoint">002154</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002154</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with <italic>KIF11</italic> mutations</title><author><name sortKey="Jones, Gabriela E" sort="Jones, Gabriela E" uniqKey="Jones G" first="Gabriela E" last="Jones">Gabriela E. Jones</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>, Leicester,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><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="aff2"><institution>Human Genetics Research Centre, Biomedical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff3"><institution>Moorfields Eye Hospital</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff4"><institution>Clinical Genetics Department, Guys and St Thomas' Hospital</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Clinical Genetics Department, Birmingham Women's Hospital</institution>, Birmingham,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff6"><institution>Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust</institution>, Sheffield,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Brady, Angela F" sort="Brady, Angela F" uniqKey="Brady A" first="Angela F" last="Brady">Angela F. Brady</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Spier, Isabel" sort="Spier, Isabel" uniqKey="Spier I" first="Isabel" last="Spier">Isabel Spier</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Institute of Human Genetics, University of Bonn</institution>, Bonn,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hazan, Filiz" sort="Hazan, Filiz" uniqKey="Hazan F" first="Filiz" last="Hazan">Filiz Hazan</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Medical Genetics, Dr Behçet Uz Children's Hospital</institution>, Izmir,<country>Turkey</country></nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Moldovan, Oana" sort="Moldovan, Oana" uniqKey="Moldovan O" first="Oana" last="Moldovan">Oana Moldovan</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Serviço de Genética Médica, Hospital Santa Maria</institution>, Lisbon,<country>Portugal</country></nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen</institution>, Essen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mikat, Barbara" sort="Mikat, Barbara" uniqKey="Mikat B" first="Barbara" last="Mikat">Barbara Mikat</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen</institution>, Essen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France</institution>, Lille,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Department of Medical Genetics, Arnaud de Villeneuve's Hospital</institution>, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Saul, Robert A" sort="Saul, Robert A" uniqKey="Saul R" first="Robert A" last="Saul">Robert A. Saul</name><affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA)</institution>, Greenville, SC,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</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="aff15"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff2"><institution>Human Genetics Research Centre, Biomedical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Vasudevan, Pradeep C" sort="Vasudevan, Pradeep C" uniqKey="Vasudevan P" first="Pradeep C" last="Vasudevan">Pradeep C. Vasudevan</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>, Leicester,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</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="aff15"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">European Journal of Human Genetics</title><idno type="ISSN">1018-4813</idno><idno type="eISSN">1476-5438</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. Mutations in the kinesin family member 11 (<italic>KIF11</italic>) gene have now been described in 16 families worldwide. This is a review of the condition based on the clinical features of 37 individuals from 22 families. This report includes nine previously unreported families and additional information for some of those reported previously. The condition arose <italic>de novo</italic> in 8/20 families (40%). The parental results were not available for two probands. The mutations were varied and include missense, nonsense, frameshift, and splice site and are distributed evenly throughout the <italic>KIF11</italic> gene. In our cohort, 86% had microcephaly, 78% had an ocular abnormality consistent with the diagnosis, 46% had lymphoedema, 73% had mild-moderate learning difficulties, 8% had epilepsy, and 8% had a cardiac anomaly. We identified three individuals with <italic>KIF11</italic> mutations but no clinical features of MCLMR demonstrating reduced penetrance. The variable expression of the phenotype and the presence of mildly affected individuals indicates that the prevalence may be higher than expected, and we would therefore recommend a low threshold for genetic testing.</p></div></front></TEI></pmc><pubmed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.</title><author><name sortKey="Jones, Gabriela E" sort="Jones, Gabriela E" uniqKey="Jones G" first="Gabriela E" last="Jones">Gabriela E. Jones</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester</wicri:regionArea><wicri:noRegion>Leicester</wicri:noRegion></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="4"><nlm:affiliation>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></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="3"><nlm:affiliation>Moorfields Eye Hospital, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Moorfields Eye Hospital, London</wicri:regionArea><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="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C" last="Connell">Fiona C. Connell</name><affiliation wicri:level="3"><nlm:affiliation>Clinical Genetics Department, Guys and St Thomas' Hospital, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Department, Guys and St Thomas' Hospital, London</wicri:regionArea><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="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation wicri:level="3"><nlm:affiliation>Clinical Genetics Department, Birmingham Women's Hospital, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Department, Birmingham Women's Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</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:affiliation>Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust, Sheffield, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust, Sheffield</wicri:regionArea><wicri:noRegion>Sheffield</wicri:noRegion></affiliation></author><author><name sortKey="Brady, Angela F" sort="Brady, Angela F" uniqKey="Brady A" first="Angela F" last="Brady">Angela F. Brady</name><affiliation wicri:level="3"><nlm:affiliation>Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust, London</wicri:regionArea><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="Spier, Isabel" sort="Spier, Isabel" uniqKey="Spier I" first="Isabel" last="Spier">Isabel Spier</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Bonn, Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Hazan, Filiz" sort="Hazan, Filiz" uniqKey="Hazan F" first="Filiz" last="Hazan">Filiz Hazan</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Dr Behçet Uz Children's Hospital, Izmir, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Genetics, Dr Behçet Uz Children's Hospital, Izmir</wicri:regionArea><wicri:noRegion>Izmir</wicri:noRegion></affiliation></author><author><name sortKey="Moldovan, Oana" sort="Moldovan, Oana" uniqKey="Moldovan O" first="Oana" last="Moldovan">Oana Moldovan</name><affiliation wicri:level="1"><nlm:affiliation>Serviço de Genética Médica, Hospital Santa Maria, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Serviço de Genética Médica, Hospital Santa Maria, Lisbon</wicri:regionArea><wicri:noRegion>Lisbon</wicri:noRegion></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen</wicri:regionArea><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion></affiliation></author><author><name sortKey="Mikat, Barbara" sort="Mikat, Barbara" uniqKey="Mikat B" first="Barbara" last="Mikat">Barbara Mikat</name><affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen</wicri:regionArea><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation wicri:level="3"><nlm:affiliation>Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name><affiliation wicri:level="3"><nlm:affiliation>Department of Medical Genetics, Arnaud de Villeneuve's Hospital, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, Arnaud de Villeneuve's Hospital, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Saul, Robert A" sort="Saul, Robert A" uniqKey="Saul R" first="Robert A" last="Saul">Robert A. Saul</name><affiliation wicri:level="2"><nlm:affiliation>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA), Greenville, SC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA), Greenville, SC</wicri:regionArea><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="3"><nlm:affiliation>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London</wicri:regionArea><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="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation wicri:level="4"><nlm:affiliation>Department of Clinical Sciences, St George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Sciences, St George's University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></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:affiliation>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></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:affiliation>Department of Clinical Sciences, St George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Sciences, St George's University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Vasudevan, Pradeep C" sort="Vasudevan, Pradeep C" uniqKey="Vasudevan P" first="Pradeep C" last="Vasudevan">Pradeep C. Vasudevan</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester</wicri:regionArea><wicri:noRegion>Leicester</wicri:noRegion></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="3"><nlm:affiliation>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24281367</idno><idno type="pmid">24281367</idno><idno type="doi">10.1038/ejhg.2013.263</idno><idno type="wicri:Area/PubMed/Corpus">001804</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001804</idno><idno type="wicri:Area/PubMed/Curation">001804</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001804</idno><idno type="wicri:Area/PubMed/Checkpoint">001804</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001804</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.</title><author><name sortKey="Jones, Gabriela E" sort="Jones, Gabriela E" uniqKey="Jones G" first="Gabriela E" last="Jones">Gabriela E. Jones</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester</wicri:regionArea><wicri:noRegion>Leicester</wicri:noRegion></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="4"><nlm:affiliation>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></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="3"><nlm:affiliation>Moorfields Eye Hospital, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Moorfields Eye Hospital, London</wicri:regionArea><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="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C" last="Connell">Fiona C. Connell</name><affiliation wicri:level="3"><nlm:affiliation>Clinical Genetics Department, Guys and St Thomas' Hospital, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Department, Guys and St Thomas' Hospital, London</wicri:regionArea><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="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation wicri:level="3"><nlm:affiliation>Clinical Genetics Department, Birmingham Women's Hospital, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Department, Birmingham Women's Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</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:affiliation>Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust, Sheffield, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust, Sheffield</wicri:regionArea><wicri:noRegion>Sheffield</wicri:noRegion></affiliation></author><author><name sortKey="Brady, Angela F" sort="Brady, Angela F" uniqKey="Brady A" first="Angela F" last="Brady">Angela F. Brady</name><affiliation wicri:level="3"><nlm:affiliation>Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust, London</wicri:regionArea><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="Spier, Isabel" sort="Spier, Isabel" uniqKey="Spier I" first="Isabel" last="Spier">Isabel Spier</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Bonn, Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Hazan, Filiz" sort="Hazan, Filiz" uniqKey="Hazan F" first="Filiz" last="Hazan">Filiz Hazan</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Dr Behçet Uz Children's Hospital, Izmir, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Genetics, Dr Behçet Uz Children's Hospital, Izmir</wicri:regionArea><wicri:noRegion>Izmir</wicri:noRegion></affiliation></author><author><name sortKey="Moldovan, Oana" sort="Moldovan, Oana" uniqKey="Moldovan O" first="Oana" last="Moldovan">Oana Moldovan</name><affiliation wicri:level="1"><nlm:affiliation>Serviço de Genética Médica, Hospital Santa Maria, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Serviço de Genética Médica, Hospital Santa Maria, Lisbon</wicri:regionArea><wicri:noRegion>Lisbon</wicri:noRegion></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen</wicri:regionArea><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion></affiliation></author><author><name sortKey="Mikat, Barbara" sort="Mikat, Barbara" uniqKey="Mikat B" first="Barbara" last="Mikat">Barbara Mikat</name><affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen</wicri:regionArea><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation wicri:level="3"><nlm:affiliation>Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name><affiliation wicri:level="3"><nlm:affiliation>Department of Medical Genetics, Arnaud de Villeneuve's Hospital, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, Arnaud de Villeneuve's Hospital, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Saul, Robert A" sort="Saul, Robert A" uniqKey="Saul R" first="Robert A" last="Saul">Robert A. Saul</name><affiliation wicri:level="2"><nlm:affiliation>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA), Greenville, SC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA), Greenville, SC</wicri:regionArea><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="3"><nlm:affiliation>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London</wicri:regionArea><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="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation wicri:level="4"><nlm:affiliation>Department of Clinical Sciences, St George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Sciences, St George's University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></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:affiliation>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></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:affiliation>Department of Clinical Sciences, St George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Sciences, St George's University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Vasudevan, Pradeep C" sort="Vasudevan, Pradeep C" uniqKey="Vasudevan P" first="Pradeep C" last="Vasudevan">Pradeep C. Vasudevan</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester</wicri:regionArea><wicri:noRegion>Leicester</wicri:noRegion></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="3"><nlm:affiliation>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London</wicri:regionArea><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">European journal of human genetics : EJHG</title><idno type="eISSN">1476-5438</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cohort Studies</term><term>Family</term><term>Female</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Kinesin (genetics)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Microcephaly (genetics)</term><term>Mutation</term><term>Penetrance</term><term>Phenotype</term><term>Retinal Diseases (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Déficience intellectuelle (génétique)</term><term>Famille</term><term>Femelle</term><term>Humains</term><term>Kinésine (génétique)</term><term>Lymphoedème (génétique)</term><term>Microcéphalie (génétique)</term><term>Mutation</term><term>Mâle</term><term>Phénotype</term><term>Pénétrance</term><term>Rétinopathies (génétique)</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="genetics" xml:lang="en"><term>Intellectual Disability</term><term>Lymphedema</term><term>Microcephaly</term><term>Retinal Diseases</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term><term>Kinésine</term><term>Lymphoedème</term><term>Microcéphalie</term><term>Rétinopathies</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Cohort Studies</term><term>Family</term><term>Female</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Penetrance</term><term>Phenotype</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Famille</term><term>Femelle</term><term>Humains</term><term>Mutation</term><term>Mâle</term><term>Phénotype</term><term>Pénétrance</term><term>Études de cohortes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. Mutations in the kinesin family member 11 (KIF11) gene have now been described in 16 families worldwide. This is a review of the condition based on the clinical features of 37 individuals from 22 families. This report includes nine previously unreported families and additional information for some of those reported previously. The condition arose de novo in 8/20 families (40%). The parental results were not available for two probands. The mutations were varied and include missense, nonsense, frameshift, and splice site and are distributed evenly throughout the KIF11 gene. In our cohort, 86% had microcephaly, 78% had an ocular abnormality consistent with the diagnosis, 46% had lymphoedema, 73% had mild-moderate learning difficulties, 8% had epilepsy, and 8% had a cardiac anomaly. We identified three individuals with KIF11 mutations but no clinical features of MCLMR demonstrating reduced penetrance. The variable expression of the phenotype and the presence of mildly affected individuals indicates that the prevalence may be higher than expected, and we would therefore recommend a low threshold for genetic testing.</div></front></TEI></pubmed></double></record>Pour manipuler ce document sous Unix (Dilib)
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