No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Identifieur interne : 000F15 ( PubMed/Corpus ); précédent : 000F14; suivant : 000F16No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Auteurs : Matthieu J. Schlögel ; Antonella Mendola ; Elodie Fastré ; Pradeep Vasudevan ; Koen Devriendt ; Thomy J L. De Ravel ; Hilde Van Esch ; Ingele Casteels ; Ignacio Arroyo Carrera ; Francesca Cristofoli ; Karen Fieggen ; Katheryn Jones ; Mark Lipson ; Irina Balikova ; Ami Singer ; Maria Soller ; María Mercedes Villanueva ; Nicole Revencu ; Laurence M. Boon ; Pascal Brouillard ; Miikka VikkulaSource :
- Orphanet journal of rare diseases [ 1750-1172 ] ; 2015.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Kinesin.
- genetics : Intellectual Disability, Lymphedema, Microcephaly, Retinal Dysplasia.
- Adult, Facies, Female, Heterozygote, Humans, Male, Mutation, Phenotype, Young Adult.
Abstract
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5.
DOI: 10.1186/s13023-015-0271-4
PubMed: 25934493
Links to Exploration step
pubmed:25934493Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.</title><author><name sortKey="Schlogel, Matthieu J" sort="Schlogel, Matthieu J" uniqKey="Schlogel M" first="Matthieu J" last="Schlögel">Matthieu J. Schlögel</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. matthieu.schlogel@uclouvain.be.</nlm:affiliation></affiliation></author><author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. antonella.mendola@uclouvain.be.</nlm:affiliation></affiliation></author><author><name sortKey="Fastre, Elodie" sort="Fastre, Elodie" uniqKey="Fastre E" first="Elodie" last="Fastré">Elodie Fastré</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. elodie.fastre@uclouvain.be.</nlm:affiliation></affiliation></author><author><name sortKey="Vasudevan, Pradeep" sort="Vasudevan, Pradeep" uniqKey="Vasudevan P" first="Pradeep" last="Vasudevan">Pradeep Vasudevan</name><affiliation><nlm:affiliation>Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester, LE1 5WW, UK. pradeep.vasudevan@uhl-tr.nhs.uk.</nlm:affiliation></affiliation></author><author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name><affiliation><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. koenraad.devriendt@uzleuven.be.</nlm:affiliation></affiliation></author><author><name sortKey="De Ravel, Thomy J L" sort="De Ravel, Thomy J L" uniqKey="De Ravel T" first="Thomy J L" last="De Ravel">Thomy J L. De Ravel</name><affiliation><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. thomy.deravel@uzleuven.be.</nlm:affiliation></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. Hilde.Vanesch@uzleuven.be.</nlm:affiliation></affiliation></author><author><name sortKey="Casteels, Ingele" sort="Casteels, Ingele" uniqKey="Casteels I" first="Ingele" last="Casteels">Ingele Casteels</name><affiliation><nlm:affiliation>Department of Ophthalmology, St Rafael University Hospitals, 3000, Leuven, Belgium. ingele.casteels@uzleuven.be.</nlm:affiliation></affiliation></author><author><name sortKey="Arroyo Carrera, Ignacio" sort="Arroyo Carrera, Ignacio" uniqKey="Arroyo Carrera I" first="Ignacio" last="Arroyo Carrera">Ignacio Arroyo Carrera</name><affiliation><nlm:affiliation>Servicio de Pediatría, Hospital San Pedro de Alcántara, Cáceres, Spain. IARROY@telefonica.net.</nlm:affiliation></affiliation></author><author><name sortKey="Cristofoli, Francesca" sort="Cristofoli, Francesca" uniqKey="Cristofoli F" first="Francesca" last="Cristofoli">Francesca Cristofoli</name><affiliation><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. francesca.cristofoli@med.kuleuven.be.</nlm:affiliation></affiliation></author><author><name sortKey="Fieggen, Karen" sort="Fieggen, Karen" uniqKey="Fieggen K" first="Karen" last="Fieggen">Karen Fieggen</name><affiliation><nlm:affiliation>Division of Human Genetics, University of Cape Town, 7700, Cape Town, South Africa. Karen.Fieggen@uct.ac.za.</nlm:affiliation></affiliation></author><author><name sortKey="Jones, Katheryn" sort="Jones, Katheryn" uniqKey="Jones K" first="Katheryn" last="Jones">Katheryn Jones</name><affiliation><nlm:affiliation>Medical Genetics, Kaiser Permanente, Sacramento, CA, 95815, USA. Katheryn.Jones@kp.org.</nlm:affiliation></affiliation></author><author><name sortKey="Lipson, Mark" sort="Lipson, Mark" uniqKey="Lipson M" first="Mark" last="Lipson">Mark Lipson</name><affiliation><nlm:affiliation>Medical Genetics, Kaiser Permanente, Sacramento, CA, 95815, USA. Mark.Lipson@kp.org.</nlm:affiliation></affiliation></author><author><name sortKey="Balikova, Irina" sort="Balikova, Irina" uniqKey="Balikova I" first="Irina" last="Balikova">Irina Balikova</name><affiliation><nlm:affiliation>Department of Ophthalmology, Queen Fabiola Children's University Hospital (HUDERF), 1020, Brussels, Belgium. Irina.Balikova@ulb.ac.be.</nlm:affiliation></affiliation></author><author><name sortKey="Singer, Ami" sort="Singer, Ami" uniqKey="Singer A" first="Ami" last="Singer">Ami Singer</name><affiliation><nlm:affiliation>Pediatrics and Medical Genetics, Barzilai Medical Center, 78306, Ashkelon, Israel. amihood@netvision.net.il.</nlm:affiliation></affiliation></author><author><name sortKey="Soller, Maria" sort="Soller, Maria" uniqKey="Soller M" first="Maria" last="Soller">Maria Soller</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Lund University Hospital, 221 85, Lund, Sweden. maria.soller@med.lu.se.</nlm:affiliation></affiliation></author><author><name sortKey="Mercedes Villanueva, Maria" sort="Mercedes Villanueva, Maria" uniqKey="Mercedes Villanueva M" first="María" last="Mercedes Villanueva">María Mercedes Villanueva</name><affiliation><nlm:affiliation>General Hospital of Florencio Varela, Children's Hospital Dr. Pedro Elizalde and Foundation for Neurological Diseases of Childhood (FLENI), C1270AAN, Buenos Aires, Capital Federal, Argentina. mervi3178@yahoo.com.ar.</nlm:affiliation></affiliation></author><author><name sortKey="Revencu, Nicole" sort="Revencu, Nicole" uniqKey="Revencu N" first="Nicole" last="Revencu">Nicole Revencu</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. nicole.revencu@uclouvain.be.</nlm:affiliation></affiliation></author><author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M" last="Boon">Laurence M. Boon</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. laurence.boon@uclouvain.be.</nlm:affiliation></affiliation></author><author><name sortKey="Brouillard, Pascal" sort="Brouillard, Pascal" uniqKey="Brouillard P" first="Pascal" last="Brouillard">Pascal Brouillard</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. pascal.brouillard@uclouvain.be.</nlm:affiliation></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. miikka.vikkula@uclouvain.be.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25934493</idno><idno type="pmid">25934493</idno><idno type="doi">10.1186/s13023-015-0271-4</idno><idno type="wicri:Area/PubMed/Corpus">000F15</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000F15</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.</title><author><name sortKey="Schlogel, Matthieu J" sort="Schlogel, Matthieu J" uniqKey="Schlogel M" first="Matthieu J" last="Schlögel">Matthieu J. Schlögel</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. matthieu.schlogel@uclouvain.be.</nlm:affiliation></affiliation></author><author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. antonella.mendola@uclouvain.be.</nlm:affiliation></affiliation></author><author><name sortKey="Fastre, Elodie" sort="Fastre, Elodie" uniqKey="Fastre E" first="Elodie" last="Fastré">Elodie Fastré</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. elodie.fastre@uclouvain.be.</nlm:affiliation></affiliation></author><author><name sortKey="Vasudevan, Pradeep" sort="Vasudevan, Pradeep" uniqKey="Vasudevan P" first="Pradeep" last="Vasudevan">Pradeep Vasudevan</name><affiliation><nlm:affiliation>Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester, LE1 5WW, UK. pradeep.vasudevan@uhl-tr.nhs.uk.</nlm:affiliation></affiliation></author><author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name><affiliation><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. koenraad.devriendt@uzleuven.be.</nlm:affiliation></affiliation></author><author><name sortKey="De Ravel, Thomy J L" sort="De Ravel, Thomy J L" uniqKey="De Ravel T" first="Thomy J L" last="De Ravel">Thomy J L. De Ravel</name><affiliation><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. thomy.deravel@uzleuven.be.</nlm:affiliation></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. Hilde.Vanesch@uzleuven.be.</nlm:affiliation></affiliation></author><author><name sortKey="Casteels, Ingele" sort="Casteels, Ingele" uniqKey="Casteels I" first="Ingele" last="Casteels">Ingele Casteels</name><affiliation><nlm:affiliation>Department of Ophthalmology, St Rafael University Hospitals, 3000, Leuven, Belgium. ingele.casteels@uzleuven.be.</nlm:affiliation></affiliation></author><author><name sortKey="Arroyo Carrera, Ignacio" sort="Arroyo Carrera, Ignacio" uniqKey="Arroyo Carrera I" first="Ignacio" last="Arroyo Carrera">Ignacio Arroyo Carrera</name><affiliation><nlm:affiliation>Servicio de Pediatría, Hospital San Pedro de Alcántara, Cáceres, Spain. IARROY@telefonica.net.</nlm:affiliation></affiliation></author><author><name sortKey="Cristofoli, Francesca" sort="Cristofoli, Francesca" uniqKey="Cristofoli F" first="Francesca" last="Cristofoli">Francesca Cristofoli</name><affiliation><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. francesca.cristofoli@med.kuleuven.be.</nlm:affiliation></affiliation></author><author><name sortKey="Fieggen, Karen" sort="Fieggen, Karen" uniqKey="Fieggen K" first="Karen" last="Fieggen">Karen Fieggen</name><affiliation><nlm:affiliation>Division of Human Genetics, University of Cape Town, 7700, Cape Town, South Africa. Karen.Fieggen@uct.ac.za.</nlm:affiliation></affiliation></author><author><name sortKey="Jones, Katheryn" sort="Jones, Katheryn" uniqKey="Jones K" first="Katheryn" last="Jones">Katheryn Jones</name><affiliation><nlm:affiliation>Medical Genetics, Kaiser Permanente, Sacramento, CA, 95815, USA. Katheryn.Jones@kp.org.</nlm:affiliation></affiliation></author><author><name sortKey="Lipson, Mark" sort="Lipson, Mark" uniqKey="Lipson M" first="Mark" last="Lipson">Mark Lipson</name><affiliation><nlm:affiliation>Medical Genetics, Kaiser Permanente, Sacramento, CA, 95815, USA. Mark.Lipson@kp.org.</nlm:affiliation></affiliation></author><author><name sortKey="Balikova, Irina" sort="Balikova, Irina" uniqKey="Balikova I" first="Irina" last="Balikova">Irina Balikova</name><affiliation><nlm:affiliation>Department of Ophthalmology, Queen Fabiola Children's University Hospital (HUDERF), 1020, Brussels, Belgium. Irina.Balikova@ulb.ac.be.</nlm:affiliation></affiliation></author><author><name sortKey="Singer, Ami" sort="Singer, Ami" uniqKey="Singer A" first="Ami" last="Singer">Ami Singer</name><affiliation><nlm:affiliation>Pediatrics and Medical Genetics, Barzilai Medical Center, 78306, Ashkelon, Israel. amihood@netvision.net.il.</nlm:affiliation></affiliation></author><author><name sortKey="Soller, Maria" sort="Soller, Maria" uniqKey="Soller M" first="Maria" last="Soller">Maria Soller</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Lund University Hospital, 221 85, Lund, Sweden. maria.soller@med.lu.se.</nlm:affiliation></affiliation></author><author><name sortKey="Mercedes Villanueva, Maria" sort="Mercedes Villanueva, Maria" uniqKey="Mercedes Villanueva M" first="María" last="Mercedes Villanueva">María Mercedes Villanueva</name><affiliation><nlm:affiliation>General Hospital of Florencio Varela, Children's Hospital Dr. Pedro Elizalde and Foundation for Neurological Diseases of Childhood (FLENI), C1270AAN, Buenos Aires, Capital Federal, Argentina. mervi3178@yahoo.com.ar.</nlm:affiliation></affiliation></author><author><name sortKey="Revencu, Nicole" sort="Revencu, Nicole" uniqKey="Revencu N" first="Nicole" last="Revencu">Nicole Revencu</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. nicole.revencu@uclouvain.be.</nlm:affiliation></affiliation></author><author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M" last="Boon">Laurence M. Boon</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. laurence.boon@uclouvain.be.</nlm:affiliation></affiliation></author><author><name sortKey="Brouillard, Pascal" sort="Brouillard, Pascal" uniqKey="Brouillard P" first="Pascal" last="Brouillard">Pascal Brouillard</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. pascal.brouillard@uclouvain.be.</nlm:affiliation></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation><nlm:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. miikka.vikkula@uclouvain.be.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Orphanet journal of rare diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Facies</term><term>Female</term><term>Heterozygote</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>Phenotype</term><term>Retinal Dysplasia (genetics)</term><term>Young Adult</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 Dysplasia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Facies</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Phenotype</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25934493</PMID><DateCreated><Year>2015</Year><Month>06</Month><Day>11</Day></DateCreated><DateCompleted><Year>2016</Year><Month>02</Month><Day>29</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>25</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1750-1172</ISSN><JournalIssue CitedMedium="Internet"><Volume>10</Volume><PubDate><Year>2015</Year><Month>May</Month><Day>02</Day></PubDate></JournalIssue><Title>Orphanet journal of rare diseases</Title><ISOAbbreviation>Orphanet J Rare Dis</ISOAbbreviation></Journal><ArticleTitle>No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.</ArticleTitle><Pagination><MedlinePgn>52</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/s13023-015-0271-4</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We tested 23 unreported MCLMR index patients for KIF11. We also reviewed the clinical phenotypes of all our patients as well as of those described in previously published studies.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We identified 14 mutations, 12 of which are novel. We detected mutations in 12 affected individuals, from 6 out of 6 familial cases, and in 8 out of 17 sporadic patients. Phenotypic evaluation of patients (our 26 + 61 earlier published = 87) revealed microcephaly in 91%, eye anomalies in 72%, intellectual disability in 67% and lymphedema in 47% of the patients. Unaffected carriers were rare (4 out of 87: 5%). Family history is not a requisite for diagnosis; 31% (16 out of 52) were de novo cases.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">All inherited cases, and 50% of sporadic cases of MCLMR are due to germline KIF11 mutations. It is possible that mosaic KIF11 mutations cause the remainder of sporadic cases, which the methods employed here were not designed to detect. On the other hand, some of them might have another mimicking disorder and genetic defect, as microcephaly is highly heterogeneous. In aggregate, KIF11 mutations likely cause the majority, if not all, of MCLMR.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Schlögel</LastName><ForeName>Matthieu J</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. matthieu.schlogel@uclouvain.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mendola</LastName><ForeName>Antonella</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. antonella.mendola@uclouvain.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fastré</LastName><ForeName>Elodie</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. elodie.fastre@uclouvain.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vasudevan</LastName><ForeName>Pradeep</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester, LE1 5WW, UK. pradeep.vasudevan@uhl-tr.nhs.uk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Devriendt</LastName><ForeName>Koen</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. koenraad.devriendt@uzleuven.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Ravel</LastName><ForeName>Thomy J L</ForeName><Initials>TJ</Initials><AffiliationInfo><Affiliation>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. thomy.deravel@uzleuven.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Van Esch</LastName><ForeName>Hilde</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. Hilde.Vanesch@uzleuven.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Casteels</LastName><ForeName>Ingele</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Ophthalmology, St Rafael University Hospitals, 3000, Leuven, Belgium. ingele.casteels@uzleuven.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Arroyo Carrera</LastName><ForeName>Ignacio</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Servicio de Pediatría, Hospital San Pedro de Alcántara, Cáceres, Spain. IARROY@telefonica.net.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cristofoli</LastName><ForeName>Francesca</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. francesca.cristofoli@med.kuleuven.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fieggen</LastName><ForeName>Karen</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Division of Human Genetics, University of Cape Town, 7700, Cape Town, South Africa. Karen.Fieggen@uct.ac.za.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jones</LastName><ForeName>Katheryn</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Medical Genetics, Kaiser Permanente, Sacramento, CA, 95815, USA. Katheryn.Jones@kp.org.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lipson</LastName><ForeName>Mark</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Medical Genetics, Kaiser Permanente, Sacramento, CA, 95815, USA. Mark.Lipson@kp.org.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Balikova</LastName><ForeName>Irina</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Ophthalmology, Queen Fabiola Children's University Hospital (HUDERF), 1020, Brussels, Belgium. Irina.Balikova@ulb.ac.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Singer</LastName><ForeName>Ami</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Pediatrics and Medical Genetics, Barzilai Medical Center, 78306, Ashkelon, Israel. amihood@netvision.net.il.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Soller</LastName><ForeName>Maria</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Lund University Hospital, 221 85, Lund, Sweden. maria.soller@med.lu.se.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mercedes Villanueva</LastName><ForeName>María</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>General Hospital of Florencio Varela, Children's Hospital Dr. Pedro Elizalde and Foundation for Neurological Diseases of Childhood (FLENI), C1270AAN, Buenos Aires, Capital Federal, Argentina. mervi3178@yahoo.com.ar.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Revencu</LastName><ForeName>Nicole</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. nicole.revencu@uclouvain.be.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, 1200, Brussels, Belgium. nicole.revencu@uclouvain.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boon</LastName><ForeName>Laurence M</ForeName><Initials>LM</Initials><AffiliationInfo><Affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. laurence.boon@uclouvain.be.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Center for Vascular Anomalies, Cliniques universitaires Saint-Luc, Université catholique de Louvain, 1200, Brussels, Belgium. laurence.boon@uclouvain.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brouillard</LastName><ForeName>Pascal</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. pascal.brouillard@uclouvain.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vikkula</LastName><ForeName>Miikka</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. miikka.vikkula@uclouvain.be.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Center for Vascular Anomalies, Cliniques universitaires Saint-Luc, Université catholique de Louvain, 1200, Brussels, Belgium. miikka.vikkula@uclouvain.be.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Walloon Excellence in Lifesciences and Biotechnology (WELBIO), Université catholique de Louvain, 1200, Brussels, Belgium. miikka.vikkula@uclouvain.be.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>05</Month><Day>02</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Orphanet J Rare 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MajorTopicYN="N">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008607" MajorTopicYN="N">Intellectual Disability</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016547" MajorTopicYN="N">Kinesin</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">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="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015792" MajorTopicYN="N">Retinal Dysplasia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4464120</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>01</Month><Day>06</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>04</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>5</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>5</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>3</Month><Day>2</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25934493</ArticleId><ArticleId IdType="doi">10.1186/s13023-015-0271-4</ArticleId><ArticleId IdType="pii">10.1186/s13023-015-0271-4</ArticleId><ArticleId IdType="pmc">PMC4464120</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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