Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
Identifieur interne : 000045 ( Pmc/Corpus ); précédent : 000044; suivant : 000046Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
Auteurs : Gabriela E. Jones ; Pia Ostergaard ; Anthony T. Moore ; Fiona C. Connell ; Denise Williams ; Oliver Quarrell ; Angela F. Brady ; Isabel Spier ; Filiz Hazan ; Oana Moldovan ; Dagmar Wieczorek ; Barbara Mikat ; Florence Petit ; Christine Coubes ; Robert A. Saul ; Glen Brice ; Kristiana Gordon ; Steve Jeffery ; Peter S. Mortimer ; Pradeep C. Vasudevan ; Sahar MansourSource :
- European Journal of Human Genetics [ 1018-4813 ] ; 2013.
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
Links to Exploration step
PMC:3938398Le document en format XML
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mutations</title>
<author><name sortKey="Jones, Gabriela E" sort="Jones, Gabriela E" uniqKey="Jones G" first="Gabriela E" last="Jones">Gabriela E. Jones</name>
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<author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
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<author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T" last="Moore">Anthony T. Moore</name>
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<author><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C" last="Connell">Fiona C. Connell</name>
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</nlm:aff>
</affiliation>
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<author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name>
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<author><name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name>
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<author><name sortKey="Brady, Angela F" sort="Brady, Angela F" uniqKey="Brady A" first="Angela F" last="Brady">Angela F. Brady</name>
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<author><name sortKey="Spier, Isabel" sort="Spier, Isabel" uniqKey="Spier I" first="Isabel" last="Spier">Isabel Spier</name>
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</affiliation>
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<author><name sortKey="Hazan, Filiz" sort="Hazan, Filiz" uniqKey="Hazan F" first="Filiz" last="Hazan">Filiz Hazan</name>
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<author><name sortKey="Moldovan, Oana" sort="Moldovan, Oana" uniqKey="Moldovan O" first="Oana" last="Moldovan">Oana Moldovan</name>
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<author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
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, Essen,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name>
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</nlm:aff>
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<author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name>
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<author><name sortKey="Saul, Robert A" sort="Saul, Robert A" uniqKey="Saul R" first="Robert A" last="Saul">Robert A. Saul</name>
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</nlm:aff>
</affiliation>
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<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
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, London,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name>
<affiliation><nlm:aff id="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
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, London,<country>UK</country>
</nlm:aff>
</affiliation>
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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>
<affiliation><nlm:aff id="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>
, London,<country>UK</country>
</nlm:aff>
</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><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>
, Leicester,<country>UK</country>
</nlm:aff>
</affiliation>
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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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, London,<country>UK</country>
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<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><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>
, Leicester,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
<affiliation><nlm:aff id="aff2"><institution>Human Genetics Research Centre, Biomedical Sciences, St George's University of London</institution>
, London,<country>UK</country>
</nlm:aff>
</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><nlm:aff id="aff3"><institution>Moorfields Eye Hospital</institution>
, London,<country>UK</country>
</nlm:aff>
</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><nlm:aff id="aff4"><institution>Clinical Genetics Department, Guys and St Thomas' Hospital</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name>
<affiliation><nlm:aff id="aff5"><institution>Clinical Genetics Department, Birmingham Women's Hospital</institution>
, Birmingham,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name>
<affiliation><nlm:aff id="aff6"><institution>Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust</institution>
, Sheffield,<country>UK</country>
</nlm:aff>
</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><nlm:aff id="aff7"><institution>Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Spier, Isabel" sort="Spier, Isabel" uniqKey="Spier I" first="Isabel" last="Spier">Isabel Spier</name>
<affiliation><nlm:aff id="aff8"><institution>Institute of Human Genetics, University of Bonn</institution>
, Bonn,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hazan, Filiz" sort="Hazan, Filiz" uniqKey="Hazan F" first="Filiz" last="Hazan">Filiz Hazan</name>
<affiliation><nlm:aff id="aff9"><institution>Department of Medical Genetics, Dr Behçet Uz Children's Hospital</institution>
, Izmir,<country>Turkey</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Moldovan, Oana" sort="Moldovan, Oana" uniqKey="Moldovan O" first="Oana" last="Moldovan">Oana Moldovan</name>
<affiliation><nlm:aff id="aff10"><institution>Serviço de Genética Médica, Hospital Santa Maria</institution>
, Lisbon,<country>Portugal</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
<affiliation><nlm:aff id="aff11"><institution>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen</institution>
, Essen,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Mikat, Barbara" sort="Mikat, Barbara" uniqKey="Mikat B" first="Barbara" last="Mikat">Barbara Mikat</name>
<affiliation><nlm:aff id="aff11"><institution>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen</institution>
, Essen,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name>
<affiliation><nlm:aff id="aff13"><institution>Department of Medical Genetics, Arnaud de Villeneuve's Hospital</institution>
, Montpellier,<country>France</country>
</nlm:aff>
</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><nlm:aff id="aff14"><institution>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA)</institution>
, Greenville, SC,<country>USA</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<affiliation><nlm:aff id="aff15"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name>
<affiliation><nlm:aff id="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<affiliation><nlm:aff id="aff2"><institution>Human Genetics Research Centre, Biomedical Sciences, St George's University of London</institution>
, London,<country>UK</country>
</nlm:aff>
</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><nlm:aff id="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>
, London,<country>UK</country>
</nlm:aff>
</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><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>
, Leicester,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<affiliation><nlm:aff id="aff15"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>
, London,<country>UK</country>
</nlm:aff>
</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>
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<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 article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet</journal-id>
<journal-title-group><journal-title>European Journal of Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">1018-4813</issn>
<issn pub-type="epub">1476-5438</issn>
<publisher><publisher-name>Nature Publishing Group</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">24281367</article-id>
<article-id pub-id-type="pmc">3938398</article-id>
<article-id pub-id-type="pii">ejhg2013263</article-id>
<article-id pub-id-type="doi">10.1038/ejhg.2013.263</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with <italic>KIF11</italic>
mutations</article-title>
<alt-title alt-title-type="running"><italic>KIF11</italic>
phenotypic spectrum</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Jones</surname>
<given-names>Gabriela E</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="author-notes" rid="note1"><sup>17</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ostergaard</surname>
<given-names>Pia</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="author-notes" rid="note1"><sup>17</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Moore</surname>
<given-names>Anthony T</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Connell</surname>
<given-names>Fiona C</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Williams</surname>
<given-names>Denise</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Quarrell</surname>
<given-names>Oliver</given-names>
</name>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brady</surname>
<given-names>Angela F</given-names>
</name>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Spier</surname>
<given-names>Isabel</given-names>
</name>
<xref ref-type="aff" rid="aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hazan</surname>
<given-names>Filiz</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Moldovan</surname>
<given-names>Oana</given-names>
</name>
<xref ref-type="aff" rid="aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wieczorek</surname>
<given-names>Dagmar</given-names>
</name>
<xref ref-type="aff" rid="aff11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mikat</surname>
<given-names>Barbara</given-names>
</name>
<xref ref-type="aff" rid="aff11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Petit</surname>
<given-names>Florence</given-names>
</name>
<xref ref-type="aff" rid="aff12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Coubes</surname>
<given-names>Christine</given-names>
</name>
<xref ref-type="aff" rid="aff13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Saul</surname>
<given-names>Robert A</given-names>
</name>
<xref ref-type="aff" rid="aff14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brice</surname>
<given-names>Glen</given-names>
</name>
<xref ref-type="aff" rid="aff15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gordon</surname>
<given-names>Kristiana</given-names>
</name>
<xref ref-type="aff" rid="aff16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jeffery</surname>
<given-names>Steve</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mortimer</surname>
<given-names>Peter S</given-names>
</name>
<xref ref-type="aff" rid="aff16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vasudevan</surname>
<given-names>Pradeep C</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mansour</surname>
<given-names>Sahar</given-names>
</name>
<xref ref-type="aff" rid="aff15">15</xref>
<xref ref-type="corresp" rid="caf1">*</xref>
</contrib>
<aff id="aff1"><label>1</label>
<institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>
, Leicester,<country>UK</country>
</aff>
<aff id="aff2"><label>2</label>
<institution>Human Genetics Research Centre, Biomedical Sciences, St George's University of London</institution>
, London,<country>UK</country>
</aff>
<aff id="aff3"><label>3</label>
<institution>Moorfields Eye Hospital</institution>
, London,<country>UK</country>
</aff>
<aff id="aff4"><label>4</label>
<institution>Clinical Genetics Department, Guys and St Thomas' Hospital</institution>
, London,<country>UK</country>
</aff>
<aff id="aff5"><label>5</label>
<institution>Clinical Genetics Department, Birmingham Women's Hospital</institution>
, Birmingham,<country>UK</country>
</aff>
<aff id="aff6"><label>6</label>
<institution>Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust</institution>
, Sheffield,<country>UK</country>
</aff>
<aff id="aff7"><label>7</label>
<institution>Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust</institution>
, London,<country>UK</country>
</aff>
<aff id="aff8"><label>8</label>
<institution>Institute of Human Genetics, University of Bonn</institution>
, Bonn,<country>Germany</country>
</aff>
<aff id="aff9"><label>9</label>
<institution>Department of Medical Genetics, Dr Behçet Uz Children's Hospital</institution>
, Izmir,<country>Turkey</country>
</aff>
<aff id="aff10"><label>10</label>
<institution>Serviço de Genética Médica, Hospital Santa Maria</institution>
, Lisbon,<country>Portugal</country>
</aff>
<aff id="aff11"><label>11</label>
<institution>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen</institution>
, Essen,<country>Germany</country>
</aff>
<aff id="aff12"><label>12</label>
<institution>Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France</institution>
, Lille,<country>France</country>
</aff>
<aff id="aff13"><label>13</label>
<institution>Department of Medical Genetics, Arnaud de Villeneuve's Hospital</institution>
, Montpellier,<country>France</country>
</aff>
<aff id="aff14"><label>14</label>
<institution>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA)</institution>
, Greenville, SC,<country>USA</country>
</aff>
<aff id="aff15"><label>15</label>
<institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>
, London,<country>UK</country>
</aff>
<aff id="aff16"><label>16</label>
<institution>Department of Clinical Sciences, St George's University of London</institution>
, London,<country>UK</country>
</aff>
</contrib-group>
<author-notes><corresp id="caf1"><label>*</label>
<institution>South West Thames Regional Genetics Service, St George's University of London</institution>
, London SW17 0RE, <country>UK</country>
. Tel: +44 20 8725 0957; Fax: +44 20 8725 3444; E-mail: <email>smansour@sgul.ac.uk</email>
</corresp>
<fn fn-type="present-address" id="note1"><label>17</label>
<p>These authors contributed equally to this work.</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><month>07</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub"><day>27</day>
<month>11</month>
<year>2013</year>
</pub-date>
<volume>22</volume>
<issue>7</issue>
<fpage>881</fpage>
<lpage>887</lpage>
<history><date date-type="received"><day>25</day>
<month>05</month>
<year>2013</year>
</date>
<date date-type="rev-recd"><day>25</day>
<month>09</month>
<year>2013</year>
</date>
<date date-type="accepted"><day>01</day>
<month>10</month>
<year>2013</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2014 Macmillan Publishers Limited</copyright-statement>
<copyright-year>2014</copyright-year>
<copyright-holder>Macmillan Publishers Limited</copyright-holder>
</permissions>
<abstract><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>
</abstract>
<kwd-group><kwd>microcephaly</kwd>
<kwd>chorioretinal dysplasia</kwd>
<kwd>lymphoedema</kwd>
<kwd>KIF11</kwd>
<kwd>MCLMR</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>
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