LymphedemaV1, France, Analysis, bibRecord, 000169

Genotypes and Phenotypes of 162 Families with a Glomulin Mutation

Identifieur interne : 000169 ( France/Analysis ); précédent : 000168; suivant : 000170

Genotypes and Phenotypes of 162 Families with a Glomulin Mutation

Auteurs : P. Brouillard ; L. M. Boon [Belgique] ; N. Revencu [Belgique] ; J. Berg [Royaume-Uni] ; A. Dompmartin [France] ; J. Dubois [Canada] ; M. Garzon [États-Unis] ; S. Holden [Royaume-Uni] ; L. Kangesu [Royaume-Uni] ; C. Labrèze [France] ; S. A. Lynch ; C. Mckeown [Royaume-Uni] ; R. Meskauskas [Lituanie] ; I. Quere [France] ; S. Syed [Royaume-Uni] ; P. Vabres [France] ; M. Wassef [France] ; J. B. Mulliken [États-Unis] ; M. Vikkula [Belgique]

Source :

Molecular Syndromology [ 1661-8769 ] ; 2013.

RBID : PMC:3666456

Abstract

A decade ago, we identified a novel gene, glomulin (GLMN) in which mutations cause glomuvenous malformations (GVMs). GVMs are bluish-purple cutaneous vascular lesions with characteristic glomus cells in the walls of distended venous channels. The discovery of the genetic basis for GVMs allowed the definition of clinical features to distinguish GVMs from other venous anomalies. The variation in phenotype was also highlighted: from a single punctate blue dot to a large plaque-like lesion. In this study, we screened GLMN in a large cohort of patients to broaden the spectrum of mutations, define their frequency and search for possible genotype-phenotype correlations. Taking into account 6 families published by others, a mutation in GLMN has been found in 162 families. This represents 40 different mutations; the most frequent one being present in almost 45% of them. Expressivity varies largely, without a genotype/phenotype relationship. Among 381 individuals with a mutation, we discovered 37 unaffected carriers, implying a penetrance of 90%. As nonpenetrant individuals may transmit the disease to their descendants, knowledge on the mutational status is needed for appropriate genetic counseling.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666456

DOI: 10.1159/000348675
PubMed: 23801931
PubMed Central: 3666456

Affiliations:

Links to Exploration step

PMC:3666456

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genotypes and Phenotypes of 162 Families with a <bold><italic>Glomulin</italic>
</bold>
 Mutation</title>
<author><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P." last="Brouillard">P. Brouillard</name>
<affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, and Centers for</nlm:aff>
<wicri:noCountry code="subfield">and Centers for</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Boon, L M" sort="Boon, L M" uniqKey="Boon L" first="L. M." last="Boon">L. M. Boon</name>
<affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, and Centers for</nlm:aff>
<wicri:noCountry code="subfield">and Centers for</wicri:noCountry>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Revencu, N" sort="Revencu, N" uniqKey="Revencu N" first="N." last="Revencu">N. Revencu</name>
<affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, and Centers for</nlm:aff>
<wicri:noCountry code="subfield">and Centers for</wicri:noCountry>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">Human Genetics, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Genetics, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Berg, J" sort="Berg, J" uniqKey="Berg J" first="J." last="Berg">J. Berg</name>
<affiliation wicri:level="2"><nlm:aff id="aff4">Department of Human Genetics, Ninewells Hospital and Medical School, University of Dundee, Dundee, Scotland</nlm:aff>
<country>Royaume-Uni</country>
<placeName><region type="country">Écosse</region>
</placeName>
<wicri:cityArea>Department of Human Genetics, Ninewells Hospital and Medical School, University of Dundee, Dundee</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Dompmartin, A" sort="Dompmartin, A" uniqKey="Dompmartin A" first="A." last="Dompmartin">A. Dompmartin</name>
<affiliation wicri:level="3"><nlm:aff id="aff5">CHU Caen, Caen, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CHU Caen, Caen</wicri:regionArea>
<placeName><region type="region">Région Normandie</region>
<region type="old region">Basse-Normandie</region>
<settlement type="city">Caen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dubois, J" sort="Dubois, J" uniqKey="Dubois J" first="J." last="Dubois">J. Dubois</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Hôpital Ste Justine, Montreal, Que., Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Hôpital Ste Justine, Montreal, Que.</wicri:regionArea>
<wicri:noRegion>Que.</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Garzon, M" sort="Garzon, M" uniqKey="Garzon M" first="M." last="Garzon">M. Garzon</name>
<affiliation wicri:level="4"><nlm:aff id="aff11">Morgan Stanley Children's Hospital, Columbia University, College of Physicians and Surgeons, New York, N.Y., USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Morgan Stanley Children's Hospital, Columbia University, College of Physicians and Surgeons, New York, N.Y.</wicri:regionArea>
<orgName type="university">Université Columbia</orgName>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Holden, S" sort="Holden, S" uniqKey="Holden S" first="S." last="Holden">S. Holden</name>
<affiliation wicri:level="3"><nlm:aff id="aff13">Guy's and St Thomas Hospital, Birmingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Guy's and St Thomas Hospital, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kangesu, L" sort="Kangesu, L" uniqKey="Kangesu L" first="L." last="Kangesu">L. Kangesu</name>
<affiliation wicri:level="3"><nlm:aff id="aff14">St Andrews Centre, Broomfield Hospital, Essex and Great Ormond Street Hospital, Birmingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>St Andrews Centre, Broomfield Hospital, Essex and Great Ormond Street Hospital, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Labreze, C" sort="Labreze, C" uniqKey="Labreze C" first="C." last="Labrèze">C. Labrèze</name>
<affiliation wicri:level="3"><nlm:aff id="aff6">Hôpital Pellegrin Enfants, Bordeaux, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Hôpital Pellegrin Enfants, Bordeaux</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lynch, S A" sort="Lynch, S A" uniqKey="Lynch S" first="S. A." last="Lynch">S. A. Lynch</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Mckeown, C" sort="Mckeown, C" uniqKey="Mckeown C" first="C." last="Mckeown">C. Mckeown</name>
<affiliation wicri:level="3"><nlm:aff id="aff16">Birmingham Women's Hospital, Birmingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Birmingham Women's Hospital, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Meskauskas, R" sort="Meskauskas, R" uniqKey="Meskauskas R" first="R." last="Meskauskas">R. Meskauskas</name>
<affiliation wicri:level="1"><nlm:aff id="aff18">Vilnius University Hospital, Vilnius, Lithuania</nlm:aff>
<country xml:lang="fr">Lituanie</country>
<wicri:regionArea>Vilnius University Hospital, Vilnius</wicri:regionArea>
<wicri:noRegion>Vilnius</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Quere, I" sort="Quere, I" uniqKey="Quere I" first="I." last="Quere">I. Quere</name>
<affiliation wicri:level="3"><nlm:aff id="aff7">Hôpital St Elois, Montpellier, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Hôpital St Elois, Montpellier</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Syed, S" sort="Syed, S" uniqKey="Syed S" first="S." last="Syed">S. Syed</name>
<affiliation wicri:level="3"><nlm:aff id="aff15">Great Ormond Street Hospital for Children NHS Trust, London, Birmingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vabres, P" sort="Vabres, P" uniqKey="Vabres P" first="P." last="Vabres">P. Vabres</name>
<affiliation wicri:level="3"><nlm:aff id="aff8">CHU Dijon, Dijon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CHU Dijon, Dijon</wicri:regionArea>
<placeName><region type="region">Bourgogne-Franche-Comté</region>
<region type="old region">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wassef, M" sort="Wassef, M" uniqKey="Wassef M" first="M." last="Wassef">M. Wassef</name>
<affiliation wicri:level="3"><nlm:aff id="aff9">Hôpital Lariboisière, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Hôpital Lariboisière, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mulliken, J B" sort="Mulliken, J B" uniqKey="Mulliken J" first="J. B." last="Mulliken">J. B. Mulliken</name>
<affiliation wicri:level="1"><nlm:aff id="aff12">Children's Hospital, Harvard Medical School, Boston, Mass., USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Children's Hospital, Harvard Medical School, Boston, Mass.</wicri:regionArea>
<wicri:noRegion>Mass.</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
<affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, and Centers for</nlm:aff>
<wicri:noCountry code="subfield">and Centers for</wicri:noCountry>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">Human Genetics, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Genetics, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">23801931</idno>
<idno type="pmc">3666456</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666456</idno>
<idno type="RBID">PMC:3666456</idno>
<idno type="doi">10.1159/000348675</idno>
<date when="2013">2013</date>
<idno type="wicri:Area/Pmc/Corpus">003099</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003099</idno>
<idno type="wicri:Area/Pmc/Curation">003098</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">003098</idno>
<idno type="wicri:Area/Pmc/Checkpoint">002314</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002314</idno>
<idno type="wicri:Area/Ncbi/Merge">005A74</idno>
<idno type="wicri:Area/Ncbi/Curation">005A74</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">005A74</idno>
<idno type="wicri:doubleKey">1661-8769:2013:Brouillard P:genotypes:and:phenotypes</idno>
<idno type="wicri:Area/Main/Merge">003619</idno>
<idno type="wicri:Area/Main/Curation">003612</idno>
<idno type="wicri:Area/Main/Exploration">003612</idno>
<idno type="wicri:Area/France/Extraction">000169</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genotypes and Phenotypes of 162 Families with a <bold><italic>Glomulin</italic>
</bold>
 Mutation</title>
<author><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P." last="Brouillard">P. Brouillard</name>
<affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, and Centers for</nlm:aff>
<wicri:noCountry code="subfield">and Centers for</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Boon, L M" sort="Boon, L M" uniqKey="Boon L" first="L. M." last="Boon">L. M. Boon</name>
<affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, and Centers for</nlm:aff>
<wicri:noCountry code="subfield">and Centers for</wicri:noCountry>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Revencu, N" sort="Revencu, N" uniqKey="Revencu N" first="N." last="Revencu">N. Revencu</name>
<affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, and Centers for</nlm:aff>
<wicri:noCountry code="subfield">and Centers for</wicri:noCountry>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">Human Genetics, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Genetics, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Berg, J" sort="Berg, J" uniqKey="Berg J" first="J." last="Berg">J. Berg</name>
<affiliation wicri:level="2"><nlm:aff id="aff4">Department of Human Genetics, Ninewells Hospital and Medical School, University of Dundee, Dundee, Scotland</nlm:aff>
<country>Royaume-Uni</country>
<placeName><region type="country">Écosse</region>
</placeName>
<wicri:cityArea>Department of Human Genetics, Ninewells Hospital and Medical School, University of Dundee, Dundee</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Dompmartin, A" sort="Dompmartin, A" uniqKey="Dompmartin A" first="A." last="Dompmartin">A. Dompmartin</name>
<affiliation wicri:level="3"><nlm:aff id="aff5">CHU Caen, Caen, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CHU Caen, Caen</wicri:regionArea>
<placeName><region type="region">Région Normandie</region>
<region type="old region">Basse-Normandie</region>
<settlement type="city">Caen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dubois, J" sort="Dubois, J" uniqKey="Dubois J" first="J." last="Dubois">J. Dubois</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Hôpital Ste Justine, Montreal, Que., Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Hôpital Ste Justine, Montreal, Que.</wicri:regionArea>
<wicri:noRegion>Que.</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Garzon, M" sort="Garzon, M" uniqKey="Garzon M" first="M." last="Garzon">M. Garzon</name>
<affiliation wicri:level="4"><nlm:aff id="aff11">Morgan Stanley Children's Hospital, Columbia University, College of Physicians and Surgeons, New York, N.Y., USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Morgan Stanley Children's Hospital, Columbia University, College of Physicians and Surgeons, New York, N.Y.</wicri:regionArea>
<orgName type="university">Université Columbia</orgName>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Holden, S" sort="Holden, S" uniqKey="Holden S" first="S." last="Holden">S. Holden</name>
<affiliation wicri:level="3"><nlm:aff id="aff13">Guy's and St Thomas Hospital, Birmingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Guy's and St Thomas Hospital, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kangesu, L" sort="Kangesu, L" uniqKey="Kangesu L" first="L." last="Kangesu">L. Kangesu</name>
<affiliation wicri:level="3"><nlm:aff id="aff14">St Andrews Centre, Broomfield Hospital, Essex and Great Ormond Street Hospital, Birmingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>St Andrews Centre, Broomfield Hospital, Essex and Great Ormond Street Hospital, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Labreze, C" sort="Labreze, C" uniqKey="Labreze C" first="C." last="Labrèze">C. Labrèze</name>
<affiliation wicri:level="3"><nlm:aff id="aff6">Hôpital Pellegrin Enfants, Bordeaux, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Hôpital Pellegrin Enfants, Bordeaux</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lynch, S A" sort="Lynch, S A" uniqKey="Lynch S" first="S. A." last="Lynch">S. A. Lynch</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Mckeown, C" sort="Mckeown, C" uniqKey="Mckeown C" first="C." last="Mckeown">C. Mckeown</name>
<affiliation wicri:level="3"><nlm:aff id="aff16">Birmingham Women's Hospital, Birmingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Birmingham Women's Hospital, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Meskauskas, R" sort="Meskauskas, R" uniqKey="Meskauskas R" first="R." last="Meskauskas">R. Meskauskas</name>
<affiliation wicri:level="1"><nlm:aff id="aff18">Vilnius University Hospital, Vilnius, Lithuania</nlm:aff>
<country xml:lang="fr">Lituanie</country>
<wicri:regionArea>Vilnius University Hospital, Vilnius</wicri:regionArea>
<wicri:noRegion>Vilnius</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Quere, I" sort="Quere, I" uniqKey="Quere I" first="I." last="Quere">I. Quere</name>
<affiliation wicri:level="3"><nlm:aff id="aff7">Hôpital St Elois, Montpellier, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Hôpital St Elois, Montpellier</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Syed, S" sort="Syed, S" uniqKey="Syed S" first="S." last="Syed">S. Syed</name>
<affiliation wicri:level="3"><nlm:aff id="aff15">Great Ormond Street Hospital for Children NHS Trust, London, Birmingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vabres, P" sort="Vabres, P" uniqKey="Vabres P" first="P." last="Vabres">P. Vabres</name>
<affiliation wicri:level="3"><nlm:aff id="aff8">CHU Dijon, Dijon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CHU Dijon, Dijon</wicri:regionArea>
<placeName><region type="region">Bourgogne-Franche-Comté</region>
<region type="old region">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wassef, M" sort="Wassef, M" uniqKey="Wassef M" first="M." last="Wassef">M. Wassef</name>
<affiliation wicri:level="3"><nlm:aff id="aff9">Hôpital Lariboisière, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Hôpital Lariboisière, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mulliken, J B" sort="Mulliken, J B" uniqKey="Mulliken J" first="J. B." last="Mulliken">J. B. Mulliken</name>
<affiliation wicri:level="1"><nlm:aff id="aff12">Children's Hospital, Harvard Medical School, Boston, Mass., USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Children's Hospital, Harvard Medical School, Boston, Mass.</wicri:regionArea>
<wicri:noRegion>Mass.</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
<affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, and Centers for</nlm:aff>
<wicri:noCountry code="subfield">and Centers for</wicri:noCountry>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">Human Genetics, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Genetics, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Molecular Syndromology</title>
<idno type="ISSN">1661-8769</idno>
<idno type="eISSN">1661-8777</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>A decade ago, we identified a novel gene, <italic>glomulin (GLMN)</italic>
 in which mutations cause glomuvenous malformations (GVMs). GVMs are bluish-purple cutaneous vascular lesions with characteristic glomus cells in the walls of distended venous channels. The discovery of the genetic basis for GVMs allowed the definition of clinical features to distinguish GVMs from other venous anomalies. The variation in phenotype was also highlighted: from a single punctate blue dot to a large plaque-like lesion. In this study, we screened <italic>GLMN</italic>
 in a large cohort of patients to broaden the spectrum of mutations, define their frequency and search for possible genotype-phenotype correlations. Taking into account 6 families published by others, a mutation in <italic>GLMN</italic>
 has been found in 162 families. This represents 40 different mutations; the most frequent one being present in almost 45% of them. Expressivity varies largely, without a genotype/phenotype relationship. Among 381 individuals with a mutation, we discovered 37 unaffected carriers, implying a penetrance of 90%. As nonpenetrant individuals may transmit the disease to their descendants, knowledge on the mutational status is needed for appropriate genetic counseling.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Belgique</li>
<li>Canada</li>
<li>France</li>
<li>Lituanie</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Aquitaine</li>
<li>Basse-Normandie</li>
<li>Bourgogne</li>
<li>Bourgogne-Franche-Comté</li>
<li>Languedoc-Roussillon</li>
<li>Midlands de l'Ouest</li>
<li>Nouvelle-Aquitaine</li>
<li>Occitanie (région administrative)</li>
<li>Région Normandie</li>
<li>Région de Bruxelles-Capitale</li>
<li>Écosse</li>
<li>État de New York</li>
<li>Île-de-France</li>
</region>
<settlement><li>Birmingham</li>
<li>Bordeaux</li>
<li>Bruxelles</li>
<li>Caen</li>
<li>Dijon</li>
<li>Montpellier</li>
<li>New York</li>
<li>Paris</li>
</settlement>
<orgName><li>Université Columbia</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P." last="Brouillard">P. Brouillard</name>
<name sortKey="Lynch, S A" sort="Lynch, S A" uniqKey="Lynch S" first="S. A." last="Lynch">S. A. Lynch</name>
</noCountry>
<country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Boon, L M" sort="Boon, L M" uniqKey="Boon L" first="L. M." last="Boon">L. M. Boon</name>
</region>
<name sortKey="Revencu, N" sort="Revencu, N" uniqKey="Revencu N" first="N." last="Revencu">N. Revencu</name>
<name sortKey="Revencu, N" sort="Revencu, N" uniqKey="Revencu N" first="N." last="Revencu">N. Revencu</name>
<name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
<name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
</country>
<country name="Royaume-Uni"><region name="Écosse"><name sortKey="Berg, J" sort="Berg, J" uniqKey="Berg J" first="J." last="Berg">J. Berg</name>
</region>
<name sortKey="Holden, S" sort="Holden, S" uniqKey="Holden S" first="S." last="Holden">S. Holden</name>
<name sortKey="Kangesu, L" sort="Kangesu, L" uniqKey="Kangesu L" first="L." last="Kangesu">L. Kangesu</name>
<name sortKey="Mckeown, C" sort="Mckeown, C" uniqKey="Mckeown C" first="C." last="Mckeown">C. Mckeown</name>
<name sortKey="Syed, S" sort="Syed, S" uniqKey="Syed S" first="S." last="Syed">S. Syed</name>
</country>
<country name="France"><region name="Région Normandie"><name sortKey="Dompmartin, A" sort="Dompmartin, A" uniqKey="Dompmartin A" first="A." last="Dompmartin">A. Dompmartin</name>
</region>
<name sortKey="Labreze, C" sort="Labreze, C" uniqKey="Labreze C" first="C." last="Labrèze">C. Labrèze</name>
<name sortKey="Quere, I" sort="Quere, I" uniqKey="Quere I" first="I." last="Quere">I. Quere</name>
<name sortKey="Vabres, P" sort="Vabres, P" uniqKey="Vabres P" first="P." last="Vabres">P. Vabres</name>
<name sortKey="Wassef, M" sort="Wassef, M" uniqKey="Wassef M" first="M." last="Wassef">M. Wassef</name>
</country>
<country name="Canada"><noRegion><name sortKey="Dubois, J" sort="Dubois, J" uniqKey="Dubois J" first="J." last="Dubois">J. Dubois</name>
</noRegion>
</country>
<country name="États-Unis"><region name="État de New York"><name sortKey="Garzon, M" sort="Garzon, M" uniqKey="Garzon M" first="M." last="Garzon">M. Garzon</name>
</region>
<name sortKey="Mulliken, J B" sort="Mulliken, J B" uniqKey="Mulliken J" first="J. B." last="Mulliken">J. B. Mulliken</name>
</country>
<country name="Lituanie"><noRegion><name sortKey="Meskauskas, R" sort="Meskauskas, R" uniqKey="Meskauskas R" first="R." last="Meskauskas">R. Meskauskas</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000169 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000169 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     PMC:3666456
   |texte=   Genotypes and Phenotypes of 162 Families with a Glomulin Mutation
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/RBID.i   -Sk "pubmed:23801931" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/France/Analysis/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

Genotypes and Phenotypes of 162 Families with a Glomulin Mutation

Genotypes and Phenotypes of 162 Families with a Glomulin Mutation

Source :

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.