Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Identifieur interne : 001804 ( PubMed/Curation ); précédent : 001803; suivant : 001805Microcephaly 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 : EJHG [ 1476-5438 ] ; 2014.
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 (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.
DOI: 10.1038/ejhg.2013.263
PubMed: 24281367
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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></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: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></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: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></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></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: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></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></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></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: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></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:affiliation>Moorfields Eye Hospital, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Moorfields Eye Hospital, London</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: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></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: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></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></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: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></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: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></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></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></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></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></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: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></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: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></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: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></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: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></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: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></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: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></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: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></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></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: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></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><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24281367</PMID><DateCreated><Year>2014</Year><Month>06</Month><Day>12</Day></DateCreated><DateCompleted><Year>2015</Year><Month>02</Month><Day>12</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>02</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1476-5438</ISSN><JournalIssue CitedMedium="Internet"><Volume>22</Volume><Issue>7</Issue><PubDate><Year>2014</Year><Month>Jul</Month></PubDate></JournalIssue><Title>European journal of human genetics : EJHG</Title><ISOAbbreviation>Eur. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.</ArticleTitle><Pagination><MedlinePgn>881-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/ejhg.2013.263</ELocationID><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Jones</LastName><ForeName>Gabriela E</ForeName><Initials>GE</Initials><AffiliationInfo><Affiliation>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ostergaard</LastName><ForeName>Pia</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Moore</LastName><ForeName>Anthony T</ForeName><Initials>AT</Initials><AffiliationInfo><Affiliation>Moorfields Eye Hospital, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Connell</LastName><ForeName>Fiona C</ForeName><Initials>FC</Initials><AffiliationInfo><Affiliation>Clinical Genetics Department, Guys and St Thomas' Hospital, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Williams</LastName><ForeName>Denise</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Clinical Genetics Department, Birmingham Women's Hospital, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Quarrell</LastName><ForeName>Oliver</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust, Sheffield, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brady</LastName><ForeName>Angela F</ForeName><Initials>AF</Initials><AffiliationInfo><Affiliation>Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Spier</LastName><ForeName>Isabel</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hazan</LastName><ForeName>Filiz</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Dr Behçet Uz Children's Hospital, Izmir, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Moldovan</LastName><ForeName>Oana</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Serviço de Genética Médica, Hospital Santa Maria, Lisbon, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wieczorek</LastName><ForeName>Dagmar</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mikat</LastName><ForeName>Barbara</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Petit</LastName><ForeName>Florence</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France, Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Coubes</LastName><ForeName>Christine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Arnaud de Villeneuve's Hospital, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Saul</LastName><ForeName>Robert A</ForeName><Initials>RA</Initials><AffiliationInfo><Affiliation>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA), Greenville, SC, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Glen</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gordon</LastName><ForeName>Kristiana</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Clinical Sciences, St George's University of London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jeffery</LastName><ForeName>Steve</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mortimer</LastName><ForeName>Peter S</ForeName><Initials>PS</Initials><AffiliationInfo><Affiliation>Department of Clinical Sciences, St George's University of London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vasudevan</LastName><ForeName>Pradeep C</ForeName><Initials>PC</Initials><AffiliationInfo><Affiliation>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mansour</LastName><ForeName>Sahar</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>BHF_FS/11/40/28739</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>BHF_PG/10/58/28477</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>11</Month><Day>27</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Eur J Hum Genet</MedlineTA><NlmUniqueID>9302235</NlmUniqueID><ISSNLinking>1018-4813</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C470243">KIF11 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.6.4.4</RegistryNumber><NameOfSubstance UI="D016547">Kinesin</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C563583">Microcephaly with Chorioretinopathy, Autosomal Dominant</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections 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Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005190" MajorTopicYN="N">Family</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008607" MajorTopicYN="N">Intellectual Disability</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016547" MajorTopicYN="N">Kinesin</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008831" MajorTopicYN="N">Microcephaly</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019683" MajorTopicYN="Y">Penetrance</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="Y">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012164" MajorTopicYN="N">Retinal Diseases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">EMS55030</OtherID><OtherID Source="NLM">PMC3938398</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>05</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2013</Year><Month>09</Month><Day>25</Day></PubMedPubDate><PubMedPubDate 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