LymphedemaV1, Main, Exploration, bibRecord, 001A53

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Identifieur interne : 001A53 ( Main/Exploration ); précédent : 001A52; suivant : 001A54

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Auteurs : Matthieu J. Schlögel [Belgique] ; Antonella Mendola [Belgique] ; Elodie Fastré [Belgique] ; Pradeep Vasudevan ; Koen Devriendt [Belgique] ; Thomy Jl De Ravel [Belgique] ; Hilde Van Esch [Belgique] ; Ingele Casteels [Belgique] ; Ignacio Arroyo Carrera [Espagne] ; Francesca Cristofoli [Belgique] ; Karen Fieggen [Afrique du Sud] ; Katheryn Jones [États-Unis] ; Mark Lipson [États-Unis] ; Irina Balikova [Belgique] ; Ami Singer [Israël] ; Maria Soller [Suède] ; María Mercedes Villanueva ; Nicole Revencu [Belgique] ; Laurence M. Boon [Belgique] ; Pascal Brouillard [Belgique] ; Miikka Vikkula [Belgique]

Source :

Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2015.

RBID : PMC:4464120

Descripteurs français

KwdFr :
- Adulte, Dysplasie rétinienne (génétique), Déficience intellectuelle (génétique), Faciès, Femelle, Humains, Hétérozygote, Jeune adulte, Kinésine (génétique), Lymphoedème (génétique), Microcéphalie (génétique), Mutation, Mâle, Phénotype.
MESH :
- génétique : Dysplasie rétinienne, Déficience intellectuelle, Kinésine, Lymphoedème, Microcéphalie.
- Adulte, Faciès, Femelle, Humains, Hétérozygote, Jeune adulte, Mutation, Mâle, Phénotype.

English descriptors

KwdEn :
- Adult, Facies, Female, Heterozygote, Humans, Intellectual Disability (genetics), Kinesin (genetics), Lymphedema (genetics), Male, Microcephaly (genetics), Mutation, Phenotype, Retinal Dysplasia (genetics), Young Adult.
MESH :
- chemical , genetics : Kinesin.
- genetics : Intellectual Disability, Lymphedema, Microcephaly, Retinal Dysplasia.
- Adult, Facies, Female, Heterozygote, Humans, Male, Mutation, Phenotype, Young Adult.

Abstract

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.

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.

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.

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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464120

DOI: 10.1186/s13023-015-0271-4
PubMed: 25934493
PubMed Central: 4464120

Affiliations:

Le document en format XML

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<author><name sortKey="Schlogel, Matthieu J" sort="Schlogel, Matthieu J" uniqKey="Schlogel M" first="Matthieu J" last="Schlögel">Matthieu J. Schlögel</name>
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<affiliation wicri:level="4"><nlm:aff id="Aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200 Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200 Brussels</wicri:regionArea>
<orgName type="university">Université catholique de Louvain</orgName>
<placeName><settlement type="city">Louvain-la-Neuve</settlement>
<region type="region" nuts="1">Région wallonne</region>
<region type="province" nuts="1">Province du Brabant wallon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fastre, Elodie" sort="Fastre, Elodie" uniqKey="Fastre E" first="Elodie" last="Fastré">Elodie Fastré</name>
<affiliation wicri:level="4"><nlm:aff id="Aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200 Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200 Brussels</wicri:regionArea>
<orgName type="university">Université catholique de Louvain</orgName>
<placeName><settlement type="city">Louvain-la-Neuve</settlement>
<region type="region" nuts="1">Région wallonne</region>
<region type="province" nuts="1">Province du Brabant wallon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vasudevan, Pradeep" sort="Vasudevan, Pradeep" uniqKey="Vasudevan P" first="Pradeep" last="Vasudevan">Pradeep Vasudevan</name>
<affiliation><nlm:aff id="Aff2">Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester, LE1 5WW UK</nlm:aff>
<wicri:noCountry code="subfield">LE1 5WW UK</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name>
<affiliation wicri:level="3"><nlm:aff id="Aff3">Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven</wicri:regionArea>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="De Ravel, Thomy Jl" sort="De Ravel, Thomy Jl" uniqKey="De Ravel T" first="Thomy Jl" last="De Ravel">Thomy Jl De Ravel</name>
<affiliation wicri:level="3"><nlm:aff id="Aff3">Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven</wicri:regionArea>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</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 wicri:level="3"><nlm:aff id="Aff3">Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven</wicri:regionArea>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Casteels, Ingele" sort="Casteels, Ingele" uniqKey="Casteels I" first="Ingele" last="Casteels">Ingele Casteels</name>
<affiliation wicri:level="3"><nlm:aff id="Aff4">Department of Ophthalmology, St Rafael University Hospitals, 3000 Leuven, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Ophthalmology, St Rafael University Hospitals, 3000 Leuven</wicri:regionArea>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</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 wicri:level="1"><nlm:aff id="Aff5">Servicio de Pediatría, Hospital San Pedro de Alcántara, Cáceres, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Servicio de Pediatría, Hospital San Pedro de Alcántara, Cáceres</wicri:regionArea>
<wicri:noRegion>Cáceres</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cristofoli, Francesca" sort="Cristofoli, Francesca" uniqKey="Cristofoli F" first="Francesca" last="Cristofoli">Francesca Cristofoli</name>
<affiliation wicri:level="3"><nlm:aff id="Aff3">Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven</wicri:regionArea>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fieggen, Karen" sort="Fieggen, Karen" uniqKey="Fieggen K" first="Karen" last="Fieggen">Karen Fieggen</name>
<affiliation wicri:level="1"><nlm:aff id="Aff6">Division of Human Genetics, University of Cape Town, 7700 Cape Town, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Division of Human Genetics, University of Cape Town, 7700 Cape Town</wicri:regionArea>
<wicri:noRegion>7700 Cape Town</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jones, Katheryn" sort="Jones, Katheryn" uniqKey="Jones K" first="Katheryn" last="Jones">Katheryn Jones</name>
<affiliation wicri:level="2"><nlm:aff id="Aff7">Medical Genetics, Kaiser Permanente, Sacramento, CA 95815 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Medical Genetics, Kaiser Permanente, Sacramento</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Lipson, Mark" sort="Lipson, Mark" uniqKey="Lipson M" first="Mark" last="Lipson">Mark Lipson</name>
<affiliation wicri:level="2"><nlm:aff id="Aff7">Medical Genetics, Kaiser Permanente, Sacramento, CA 95815 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Medical Genetics, Kaiser Permanente, Sacramento</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Balikova, Irina" sort="Balikova, Irina" uniqKey="Balikova I" first="Irina" last="Balikova">Irina Balikova</name>
<affiliation wicri:level="3"><nlm:aff id="Aff8">Department of Ophthalmology, Queen Fabiola Children’s University Hospital (HUDERF), 1020 Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Ophthalmology, Queen Fabiola Children’s University Hospital (HUDERF), 1020 Brussels</wicri:regionArea>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Singer, Ami" sort="Singer, Ami" uniqKey="Singer A" first="Ami" last="Singer">Ami Singer</name>
<affiliation wicri:level="1"><nlm:aff id="Aff9">Pediatrics and Medical Genetics, Barzilai Medical Center, 78306 Ashkelon, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Pediatrics and Medical Genetics, Barzilai Medical Center, 78306 Ashkelon</wicri:regionArea>
<wicri:noRegion>78306 Ashkelon</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Soller, Maria" sort="Soller, Maria" uniqKey="Soller M" first="Maria" last="Soller">Maria Soller</name>
<affiliation wicri:level="1"><nlm:aff id="Aff10">Department of Clinical Genetics, Lund University Hospital, 221 85 Lund, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Clinical Genetics, Lund University Hospital, 221 85 Lund</wicri:regionArea>
<wicri:noRegion>221 85 Lund</wicri:noRegion>
</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:aff id="Aff11">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</nlm:aff>
<wicri:noCountry code="subfield">Capital Federal Argentina</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Revencu, Nicole" sort="Revencu, Nicole" uniqKey="Revencu N" first="Nicole" last="Revencu">Nicole Revencu</name>
<affiliation wicri:level="4"><nlm:aff id="Aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200 Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200 Brussels</wicri:regionArea>
<orgName type="university">Université catholique de Louvain</orgName>
<placeName><settlement type="city">Louvain-la-Neuve</settlement>
<region type="region" nuts="1">Région wallonne</region>
<region type="province" nuts="1">Province du Brabant wallon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="Aff12">Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, 1200 Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, 1200 Brussels</wicri:regionArea>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</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 wicri:level="4"><nlm:aff id="Aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200 Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200 Brussels</wicri:regionArea>
<orgName type="university">Université catholique de Louvain</orgName>
<placeName><settlement type="city">Louvain-la-Neuve</settlement>
<region type="region" nuts="1">Région wallonne</region>
<region type="province" nuts="1">Province du Brabant wallon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="Aff13">Center for Vascular Anomalies, Cliniques universitaires Saint-Luc, Université catholique de Louvain, 1200 Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Vascular Anomalies, Cliniques universitaires Saint-Luc, Université catholique de Louvain, 1200 Brussels</wicri:regionArea>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
<author><name sortKey="Brouillard, Pascal" sort="Brouillard, Pascal" uniqKey="Brouillard P" first="Pascal" last="Brouillard">Pascal Brouillard</name>
<affiliation wicri:level="4"><nlm:aff id="Aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200 Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200 Brussels</wicri:regionArea>
<orgName type="university">Université catholique de Louvain</orgName>
<placeName><settlement type="city">Louvain-la-Neuve</settlement>
<region type="region" nuts="1">Région wallonne</region>
<region type="province" nuts="1">Province du Brabant wallon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
<affiliation wicri:level="4"><nlm:aff id="Aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200 Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200 Brussels</wicri:regionArea>
<orgName type="university">Université catholique de Louvain</orgName>
<placeName><settlement type="city">Louvain-la-Neuve</settlement>
<region type="region" nuts="1">Région wallonne</region>
<region type="province" nuts="1">Province du Brabant wallon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="Aff13">Center for Vascular Anomalies, Cliniques universitaires Saint-Luc, Université catholique de Louvain, 1200 Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Vascular Anomalies, Cliniques universitaires Saint-Luc, Université catholique de Louvain, 1200 Brussels</wicri:regionArea>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="Aff14">Walloon Excellence in Lifesciences and Biotechnology (WELBIO), Université catholique de Louvain, 1200 Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Walloon Excellence in Lifesciences and Biotechnology (WELBIO), Université catholique de Louvain, 1200 Brussels</wicri:regionArea>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j">Orphanet Journal of Rare Diseases</title>
<idno type="eISSN">1750-1172</idno>
<imprint><date when="2015">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="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Dysplasie rétinienne (génétique)</term>
<term>Déficience intellectuelle (génétique)</term>
<term>Faciès</term>
<term>Femelle</term>
<term>Humains</term>
<term>Hétérozygote</term>
<term>Jeune adulte</term>
<term>Kinésine (génétique)</term>
<term>Lymphoedème (génétique)</term>
<term>Microcéphalie (génétique)</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Phénotype</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" qualifier="génétique" xml:lang="fr"><term>Dysplasie rétinienne</term>
<term>Déficience intellectuelle</term>
<term>Kinésine</term>
<term>Lymphoedème</term>
<term>Microcéphalie</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>
<keywords scheme="MESH" xml:lang="fr"><term>Adulte</term>
<term>Faciès</term>
<term>Femelle</term>
<term>Humains</term>
<term>Hétérozygote</term>
<term>Jeune adulte</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Phénotype</term>
</keywords>
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</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>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 <italic>KIF11</italic>
, which encodes a homotetrameric motor kinesin, EG5.</p>
</sec>
<sec><title>Methods</title>
<p>We tested 23 unreported MCLMR index patients for <italic>KIF11</italic>
. We also reviewed the clinical phenotypes of all our patients as well as of those described in previously published studies.</p>
</sec>
<sec><title>Results</title>
<p>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 <italic>de novo</italic>
 cases.</p>
</sec>
<sec><title>Conclusions</title>
<p>All inherited cases, and 50% of sporadic cases of MCLMR are due to germline <italic>KIF11</italic>
 mutations. It is possible that mosaic <italic>KIF11</italic>
 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, <italic>KIF11</italic>
 mutations likely cause the majority, if not all, of MCLMR.</p>
</sec>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Mckusick, Va" uniqKey="Mckusick V">VA McKusick</name>
</author>
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</author>
<author><name sortKey="Knox, Dl" uniqKey="Knox D">DL Knox</name>
</author>
<author><name sortKey="Clark, Db" uniqKey="Clark D">DB Clark</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Vasudevan, Pc" uniqKey="Vasudevan P">PC Vasudevan</name>
</author>
<author><name sortKey="Garcia Minaur, S" uniqKey="Garcia Minaur S">S Garcia-Minaur</name>
</author>
<author><name sortKey="Botella, Mp" uniqKey="Botella M">MP Botella</name>
</author>
<author><name sortKey="Perez Aytes, A" uniqKey="Perez Aytes A">A Perez-Aytes</name>
</author>
<author><name sortKey="Shannon, Nl" uniqKey="Shannon N">NL Shannon</name>
</author>
<author><name sortKey="Quarrell, Ow" uniqKey="Quarrell O">OW Quarrell</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Eventov Friedman, S" uniqKey="Eventov Friedman S">S Eventov-Friedman</name>
</author>
<author><name sortKey="Singer, A" uniqKey="Singer A">A Singer</name>
</author>
<author><name sortKey="Shinwell, Es" uniqKey="Shinwell E">ES Shinwell</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Gupta, A" uniqKey="Gupta A">A Gupta</name>
</author>
<author><name sortKey="Vasudevan, P" uniqKey="Vasudevan P">P Vasudevan</name>
</author>
<author><name sortKey="Biswas, S" uniqKey="Biswas S">S Biswas</name>
</author>
<author><name sortKey="Smith, Jc" uniqKey="Smith J">JC Smith</name>
</author>
<author><name sortKey="Moore, At" uniqKey="Moore A">AT Moore</name>
</author>
<author><name sortKey="Lloyd, C" uniqKey="Lloyd C">C Lloyd</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Lee, Bj" uniqKey="Lee B">BJ Lee</name>
</author>
<author><name sortKey="Kim, Jh" uniqKey="Kim J">JH Kim</name>
</author>
<author><name sortKey="Yu, Ys" uniqKey="Yu Y">YS Yu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ostergaard, P" uniqKey="Ostergaard P">P Ostergaard</name>
</author>
<author><name sortKey="Simpson, Ma" uniqKey="Simpson M">MA Simpson</name>
</author>
<author><name sortKey="Mendola, A" uniqKey="Mendola A">A Mendola</name>
</author>
<author><name sortKey="Vasudevan, P" uniqKey="Vasudevan P">P Vasudevan</name>
</author>
<author><name sortKey="Connell, Fc" uniqKey="Connell F">FC Connell</name>
</author>
<author><name sortKey="Van Impel, A" uniqKey="Van Impel A">A van Impel</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Robitaille, Jm" uniqKey="Robitaille J">JM Robitaille</name>
</author>
<author><name sortKey="Gillett, Rm" uniqKey="Gillett R">RM Gillett</name>
</author>
<author><name sortKey="Leblanc, Ma" uniqKey="Leblanc M">MA LeBlanc</name>
</author>
<author><name sortKey="Gaston, D" uniqKey="Gaston D">D Gaston</name>
</author>
<author><name sortKey="Nightingale, M" uniqKey="Nightingale M">M Nightingale</name>
</author>
<author><name sortKey="Mackley, Mp" uniqKey="Mackley M">MP Mackley</name>
</author>
</analytic>
</biblStruct>
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<name sortKey="Revencu, Nicole" sort="Revencu, Nicole" uniqKey="Revencu N" first="Nicole" last="Revencu">Nicole Revencu</name>
<name sortKey="Revencu, Nicole" sort="Revencu, Nicole" uniqKey="Revencu N" first="Nicole" last="Revencu">Nicole Revencu</name>
<name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name>
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<name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
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<country name="Espagne"><noRegion><name sortKey="Arroyo Carrera, Ignacio" sort="Arroyo Carrera, Ignacio" uniqKey="Arroyo Carrera I" first="Ignacio" last="Arroyo Carrera">Ignacio Arroyo Carrera</name>
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<country name="Afrique du Sud"><noRegion><name sortKey="Fieggen, Karen" sort="Fieggen, Karen" uniqKey="Fieggen K" first="Karen" last="Fieggen">Karen Fieggen</name>
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<country name="États-Unis"><region name="Californie"><name sortKey="Jones, Katheryn" sort="Jones, Katheryn" uniqKey="Jones K" first="Katheryn" last="Jones">Katheryn Jones</name>
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<name sortKey="Lipson, Mark" sort="Lipson, Mark" uniqKey="Lipson M" first="Mark" last="Lipson">Mark Lipson</name>
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<country name="Israël"><noRegion><name sortKey="Singer, Ami" sort="Singer, Ami" uniqKey="Singer A" first="Ami" last="Singer">Ami Singer</name>
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<country name="Suède"><noRegion><name sortKey="Soller, Maria" sort="Soller, Maria" uniqKey="Soller M" first="Maria" last="Soller">Maria Soller</name>
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</affiliations>
</record>

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{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:4464120
   |texte=   No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
}}

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Serveur d'exploration sur le lymphœdème

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

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	Serveur d'exploration sur le lymphœdème
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