Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Identifieur interne : 001804 ( PubMed/Corpus ); précédent : 001803; suivant : 001805Microcephaly 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 : EJHG [ 1476-5438 ] ; 2014.
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
Links to Exploration step
pubmed:24281367Le document en format XML
<record><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><nlm:affiliation>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation><nlm:affiliation>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.</nlm:affiliation></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:affiliation>Moorfields Eye Hospital, London, UK.</nlm:affiliation></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:affiliation>Clinical Genetics Department, Guys and St Thomas' Hospital, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation><nlm:affiliation>Clinical Genetics Department, Birmingham Women's Hospital, Birmingham, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name><affiliation><nlm:affiliation>Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust, Sheffield, UK.</nlm:affiliation></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:affiliation>Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Spier, Isabel" sort="Spier, Isabel" uniqKey="Spier I" first="Isabel" last="Spier">Isabel Spier</name><affiliation><nlm:affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Hazan, Filiz" sort="Hazan, Filiz" uniqKey="Hazan F" first="Filiz" last="Hazan">Filiz Hazan</name><affiliation><nlm:affiliation>Department of Medical Genetics, Dr Behçet Uz Children's Hospital, Izmir, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Moldovan, Oana" sort="Moldovan, Oana" uniqKey="Moldovan O" first="Oana" last="Moldovan">Oana Moldovan</name><affiliation><nlm:affiliation>Serviço de Genética Médica, Hospital Santa Maria, Lisbon, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation><nlm:affiliation>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Mikat, Barbara" sort="Mikat, Barbara" uniqKey="Mikat B" first="Barbara" last="Mikat">Barbara Mikat</name><affiliation><nlm:affiliation>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation><nlm:affiliation>Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France, Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name><affiliation><nlm:affiliation>Department of Medical Genetics, Arnaud de Villeneuve's Hospital, Montpellier, France.</nlm:affiliation></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:affiliation>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA), Greenville, SC, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation><nlm:affiliation>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation><nlm:affiliation>Department of Clinical Sciences, St George's University of London, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation><nlm:affiliation>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.</nlm:affiliation></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:affiliation>Department of Clinical Sciences, St George's University of London, London, UK.</nlm:affiliation></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:affiliation>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><nlm:affiliation>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation></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></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><nlm:affiliation>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation><nlm:affiliation>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.</nlm:affiliation></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:affiliation>Moorfields Eye Hospital, London, UK.</nlm:affiliation></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:affiliation>Clinical Genetics Department, Guys and St Thomas' Hospital, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation><nlm:affiliation>Clinical Genetics Department, Birmingham Women's Hospital, Birmingham, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name><affiliation><nlm:affiliation>Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust, Sheffield, UK.</nlm:affiliation></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:affiliation>Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Spier, Isabel" sort="Spier, Isabel" uniqKey="Spier I" first="Isabel" last="Spier">Isabel Spier</name><affiliation><nlm:affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Hazan, Filiz" sort="Hazan, Filiz" uniqKey="Hazan F" first="Filiz" last="Hazan">Filiz Hazan</name><affiliation><nlm:affiliation>Department of Medical Genetics, Dr Behçet Uz Children's Hospital, Izmir, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Moldovan, Oana" sort="Moldovan, Oana" uniqKey="Moldovan O" first="Oana" last="Moldovan">Oana Moldovan</name><affiliation><nlm:affiliation>Serviço de Genética Médica, Hospital Santa Maria, Lisbon, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation><nlm:affiliation>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Mikat, Barbara" sort="Mikat, Barbara" uniqKey="Mikat B" first="Barbara" last="Mikat">Barbara Mikat</name><affiliation><nlm:affiliation>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation><nlm:affiliation>Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France, Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name><affiliation><nlm:affiliation>Department of Medical Genetics, Arnaud de Villeneuve's Hospital, Montpellier, France.</nlm:affiliation></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:affiliation>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA), Greenville, SC, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation><nlm:affiliation>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation><nlm:affiliation>Department of Clinical Sciences, St George's University of London, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation><nlm:affiliation>Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.</nlm:affiliation></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:affiliation>Department of Clinical Sciences, St George's University of London, London, UK.</nlm:affiliation></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:affiliation>Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><nlm:affiliation>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation></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="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" 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></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 RefType="Cites"><RefSource>Hum Mutat. 2008 Oct;29(10):1237-46</RefSource><PMID Version="1">18546297</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Semin Pediatr Neurol. 2007 Sep;14(3):118-27</RefSource><PMID Version="1">17980308</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genet Couns. 1996;7(2):113-22</RefSource><PMID Version="1">8831130</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Dev Med Child Neurol. 2000 Nov;42(11):760-7</RefSource><PMID Version="1">11104349</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Ophthalmol. 1966 May;75(5):597-600</RefSource><PMID Version="1">5936364</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Dev Med Child Neurol. 1991 Nov;33(11):974-83</RefSource><PMID Version="1">1743426</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ophthalmic Genet. 2012 Jun;33(2):116-8</RefSource><PMID Version="1">22420539</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Dev Behav Pediatr. 2000 Feb;21(1):12-8</RefSource><PMID Version="1">10706344</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 1998 Dec 28;80(5):506-9</RefSource><PMID Version="1">9880217</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 1987 Mar;24(3):172-4</RefSource><PMID Version="1">3573001</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 1992 Aug 1;43(6):1030-1</RefSource><PMID Version="1">1415329</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ophthalmic Genet. 1998 Mar;19(1):39-48</RefSource><PMID Version="1">9587928</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Acta Paediatr. 2013 Apr;102(4):397-402</RefSource><PMID Version="1">23350618</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>PLoS One. 2012;7(1):e28936</RefSource><PMID Version="1">22279524</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Clin Genet. 2013 Oct;84(4):303-14</RefSource><PMID Version="1">23621851</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Br J Ophthalmol. 2001 Apr;85(4):499-500</RefSource><PMID Version="1">11302131</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Acta Paediatr. 2009 Apr;98(4):758-9</RefSource><PMID Version="1">19076985</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Clin Dysmorphol. 2005 Jul;14(3):109-16</RefSource><PMID Version="1">15930898</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2012 Feb 10;90(2):356-62</RefSource><PMID Version="1">22284827</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet A. 2007 Jun 1;143A(11):1218-22</RefSource><PMID Version="1">17486591</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 1999 Sep 17;86(3):215-8</RefSource><PMID Version="1">10482868</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Dis Child. 2013 Sep;98(9):707-13</RefSource><PMID Version="1">23814088</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ophthalmic Genet. 2010 Jun;31(2):89-93</RefSource><PMID Version="1">20450312</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Dis Child. 1981 Oct;135(10):930-3</RefSource><PMID Version="1">7293993</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet A. 2012 Jul;158A(7):1686-9</RefSource><PMID Version="1">22653704</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort 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