AustralieFrV1, Main, Curation, bibRecord, 008502

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Identifieur interne : 008502 ( Main/Curation ); précédent : 008501; suivant : 008503

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Auteurs : Céline Huber [France] ; Anee-Lise Delezoide [France] ; Fabien Guimiot [France] ; Clarisse Baumann [France] ; Valérie Malan [France] ; Martine Le Merrer [France] ; Daniela Bezerra Da Silva [Canada] ; Dominique Bonneau [France] ; Pierre Chatelain [France] ; Carol Chu [Royaume-Uni] ; Robin Clark [États-Unis] ; Helen Cox [Royaume-Uni] ; Patrick Edery [France] ; Thomas Edouard [France] ; Virginia Fano [Argentine] ; Kate Gibson [Australie] ; Gabriele Gillessen-Kaesbach [Allemagne] ; Maria-Luisa Giovannucci-Uzielli [Italie] ; Luitgard Margarete Graul-Neumann [Allemagne] ; Johana-Maria Van Hagen [Pays-Bas] ; Liselot Van Hest [Pays-Bas] ; Dafne Horovitz [Brésil] ; Judith Melki [Israël] ; Carl-Joachim Partsch [Allemagne] ; Henry Plauchu [France] ; Anna Rajab [Émirats arabes unis] ; Massimiliano Rossi [Italie] ; David Sillence [Australie] ; Elisabeth Steichen-Gersdorf [Autriche] ; Helen Stewart ; Sheila Unger ; Martin Zenker ; Arnold Munnich [France] ; Valérie Cormier-Daire [France]

Source :

European journal of human genetics [ 1018-4813 ] ; 2009.

RBID : Pascal:09-0101434

Descripteurs français

Pascal (Inist)
- Mutation, Diversité génétique, Syndrome, Origine paternelle, Isodisomie, Chromosome C6, Chromosome 6, Génétique.
Wicri :
- topic : Génétique.

English descriptors

KwdEn :
- Chromosome 6, Chromosome C6, Genetic diversity, Genetics, Isodisomy, Mutation, Paternal origin, Syndrome.

Abstract

The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.

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Le document en format XML

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<author><name sortKey="Bezerra Da Silva, Daniela" sort="Bezerra Da Silva, Daniela" uniqKey="Bezerra Da Silva D" first="Daniela" last="Bezerra Da Silva">Daniela Bezerra Da Silva</name>
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<author><name sortKey="Chu, Carol" sort="Chu, Carol" uniqKey="Chu C" first="Carol" last="Chu">Carol Chu</name>
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<author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name>
<affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
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</inist:fA14>
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</affiliation>
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<author><name sortKey="Edouard, Thomas" sort="Edouard, Thomas" uniqKey="Edouard T" first="Thomas" last="Edouard">Thomas Edouard</name>
<affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Service d'Endocrinologie Pédiatrique, Hopital Purpan</s1>
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<author><name sortKey="Fano, Virginia" sort="Fano, Virginia" uniqKey="Fano V" first="Virginia" last="Fano">Virginia Fano</name>
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<author><name sortKey="Gibson, Kate" sort="Gibson, Kate" uniqKey="Gibson K" first="Kate" last="Gibson">Kate Gibson</name>
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</author>
<author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name>
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</inist:fA14>
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<wicri:noRegion>Institut für Humangenetik Universität zu Lubeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria-Luisa" last="Giovannucci-Uzielli">Maria-Luisa Giovannucci-Uzielli</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Department of Paediatrics, Genetics and Molecular Medicine, University of Florence</s1>
<s2>Firenze</s2>
<s3>ITA</s3>
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</inist:fA14>
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</affiliation>
</author>
<author><name sortKey="Margarete Graul Neumann, Luitgard" sort="Margarete Graul Neumann, Luitgard" uniqKey="Margarete Graul Neumann L" first="Luitgard" last="Margarete Graul-Neumann">Luitgard Margarete Graul-Neumann</name>
<affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Institute of Human Genetics, Charité, Campus Virchow-Klinikum</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
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</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Van Hagen, Johana Maria" sort="Van Hagen, Johana Maria" uniqKey="Van Hagen J" first="Johana-Maria" last="Van Hagen">Johana-Maria Van Hagen</name>
<affiliation wicri:level="3"><inist:fA14 i1="17"><s1>Department of Clinical Genetics, VU university medical centre</s1>
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<s3>NLD</s3>
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</inist:fA14>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Van Hest, Liselot" sort="Van Hest, Liselot" uniqKey="Van Hest L" first="Liselot" last="Van Hest">Liselot Van Hest</name>
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</inist:fA14>
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<placeName><settlement type="city">Amsterdam</settlement>
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</placeName>
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</author>
<author><name sortKey="Horovitz, Dafne" sort="Horovitz, Dafne" uniqKey="Horovitz D" first="Dafne" last="Horovitz">Dafne Horovitz</name>
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<s3>BRA</s3>
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</inist:fA14>
<country>Brésil</country>
<placeName><settlement type="city">Rio de Janeiro</settlement>
<region type="state">État de Rio de Janeiro</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name>
<affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Department of Human Genetics, Hadassah University Hospital</s1>
<s2>Jerusalem</s2>
<s3>ISR</s3>
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</inist:fA14>
<country>Israël</country>
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</affiliation>
</author>
<author><name sortKey="Partsch, Carl Joachim" sort="Partsch, Carl Joachim" uniqKey="Partsch C" first="Carl-Joachim" last="Partsch">Carl-Joachim Partsch</name>
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</author>
<author><name sortKey="Plauchu, Henry" sort="Plauchu, Henry" uniqKey="Plauchu H" first="Henry" last="Plauchu">Henry Plauchu</name>
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</author>
<author><name sortKey="Rajab, Anna" sort="Rajab, Anna" uniqKey="Rajab A" first="Anna" last="Rajab">Anna Rajab</name>
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</author>
<author><name sortKey="Rossi, Massimiliano" sort="Rossi, Massimiliano" uniqKey="Rossi M" first="Massimiliano" last="Rossi">Massimiliano Rossi</name>
<affiliation wicri:level="1"><inist:fA14 i1="23"><s1>Department of Pediatrics, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Naples</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name>
<affiliation wicri:level="1"><inist:fA14 i1="24"><s1>Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School</s1>
<s2>Westmead</s2>
<s3>AUS</s3>
<sZ>28 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Westmead</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Steichen Gersdorf, Elisabeth" sort="Steichen Gersdorf, Elisabeth" uniqKey="Steichen Gersdorf E" first="Elisabeth" last="Steichen-Gersdorf">Elisabeth Steichen-Gersdorf</name>
<affiliation wicri:level="1"><inist:fA14 i1="25"><s1>Universitätsklinik für Kinder-und Jugendheilkunde</s1>
<s2>Innsbruck</s2>
<s3>AUT</s3>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>Autriche</country>
<wicri:noRegion>Universitätsklinik für Kinder-und Jugendheilkunde</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stewart, Helen" sort="Stewart, Helen" uniqKey="Stewart H" first="Helen" last="Stewart">Helen Stewart</name>
</author>
<author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name>
</author>
<author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
</author>
<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>33 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>33 aut.</sZ>
<sZ>34 aut.</sZ>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A large-scale mutation search reveals genetic heterogeneity in 3M syndrome</title>
<author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Céline" last="Huber">Céline Huber</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</s1>
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<sZ>6 aut.</sZ>
<sZ>33 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Delezoide, Anee Lise" sort="Delezoide, Anee Lise" uniqKey="Delezoide A" first="Anee-Lise" last="Delezoide">Anee-Lise Delezoide</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Developmental Biology, Université Paris Diderot, AP-HP, Hôpital Robert Debré</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
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</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Guimiot, Fabien" sort="Guimiot, Fabien" uniqKey="Guimiot F" first="Fabien" last="Guimiot">Fabien Guimiot</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Developmental Biology, Université Paris Diderot, AP-HP, Hôpital Robert Debré</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Genetics, AP-HP, Hôpital Robert Debré</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Malan, Valerie" sort="Malan, Valerie" uniqKey="Malan V" first="Valérie" last="Malan">Valérie Malan</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>33 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>33 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Bezerra Da Silva, Daniela" sort="Bezerra Da Silva, Daniela" uniqKey="Bezerra Da Silva D" first="Daniela" last="Bezerra Da Silva">Daniela Bezerra Da Silva</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Service de génétique, CHU Sainte Justine</s1>
<s2>Montreal</s2>
<s3>CAN</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bonneau, Dominique" sort="Bonneau, Dominique" uniqKey="Bonneau D" first="Dominique" last="Bonneau">Dominique Bonneau</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Biochemistry and Medical Genetics and INSERM, U694</s1>
<s2>Angers</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Pays de la Loire</region>
<region type="old region">Pays de la Loire</region>
<settlement type="city">Angers</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chatelain, Pierre" sort="Chatelain, Pierre" uniqKey="Chatelain P" first="Pierre" last="Chatelain">Pierre Chatelain</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Service d'endocrinologie, Hopital Debrousse 2</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chu, Carol" sort="Chu, Carol" uniqKey="Chu C" first="Carol" last="Chu">Carol Chu</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Yorkshire Regional Genetic Service, Leeds Teaching Hospitals Trust</s1>
<s2>Leeds</s2>
<s3>GBR</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Leeds</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Clark, Robin" sort="Clark, Robin" uniqKey="Clark R" first="Robin" last="Clark">Robin Clark</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Division of Clinical Genetics, Department of Pediatrics, Loma Linda School of Medicine</s1>
<s2>Loma Linda</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Loma Linda</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cox, Helen" sort="Cox, Helen" uniqKey="Cox H" first="Helen" last="Cox">Helen Cox</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>West Midlands Regional Clinical Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital</s1>
<s2>Birmingham</s2>
<s3>GBR</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name>
<affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Edouard, Thomas" sort="Edouard, Thomas" uniqKey="Edouard T" first="Thomas" last="Edouard">Thomas Edouard</name>
<affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Service d'Endocrinologie Pédiatrique, Hopital Purpan</s1>
<s2>Toulouse</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fano, Virginia" sort="Fano, Virginia" uniqKey="Fano V" first="Virginia" last="Fano">Virginia Fano</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Hospital JP Garrahan, Combate de los Pozos 1881</s1>
<s2>Buenos Aires</s2>
<s3>ARG</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Argentine</country>
<wicri:noRegion>Buenos Aires</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gibson, Kate" sort="Gibson, Kate" uniqKey="Gibson K" first="Kate" last="Gibson">Kate Gibson</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Genetic Health Queensland, Royal Children's Hospital</s1>
<s2>Brisbane</s2>
<s3>AUS</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Institut für Humangenetik Universität zu Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>Institut für Humangenetik Universität zu Lubeck</wicri:noRegion>
<wicri:noRegion>Institut für Humangenetik Universität zu Lubeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria-Luisa" last="Giovannucci-Uzielli">Maria-Luisa Giovannucci-Uzielli</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Department of Paediatrics, Genetics and Molecular Medicine, University of Florence</s1>
<s2>Firenze</s2>
<s3>ITA</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Firenze</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Margarete Graul Neumann, Luitgard" sort="Margarete Graul Neumann, Luitgard" uniqKey="Margarete Graul Neumann L" first="Luitgard" last="Margarete Graul-Neumann">Luitgard Margarete Graul-Neumann</name>
<affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Institute of Human Genetics, Charité, Campus Virchow-Klinikum</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Hagen, Johana Maria" sort="Van Hagen, Johana Maria" uniqKey="Van Hagen J" first="Johana-Maria" last="Van Hagen">Johana-Maria Van Hagen</name>
<affiliation wicri:level="3"><inist:fA14 i1="17"><s1>Department of Clinical Genetics, VU university medical centre</s1>
<s2>Amsterdam</s2>
<s3>NLD</s3>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Hest, Liselot" sort="Van Hest, Liselot" uniqKey="Van Hest L" first="Liselot" last="Van Hest">Liselot Van Hest</name>
<affiliation wicri:level="3"><inist:fA14 i1="17"><s1>Department of Clinical Genetics, VU university medical centre</s1>
<s2>Amsterdam</s2>
<s3>NLD</s3>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Horovitz, Dafne" sort="Horovitz, Dafne" uniqKey="Horovitz D" first="Dafne" last="Horovitz">Dafne Horovitz</name>
<affiliation wicri:level="3"><inist:fA14 i1="18"><s1>Centro de Genética Médica, Instituto Fernandes Figueira</s1>
<s2>Rio de Janeiro</s2>
<s3>BRA</s3>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<placeName><settlement type="city">Rio de Janeiro</settlement>
<region type="state">État de Rio de Janeiro</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name>
<affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Department of Human Genetics, Hadassah University Hospital</s1>
<s2>Jerusalem</s2>
<s3>ISR</s3>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Israël</country>
<wicri:noRegion>Jerusalem</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Partsch, Carl Joachim" sort="Partsch, Carl Joachim" uniqKey="Partsch C" first="Carl-Joachim" last="Partsch">Carl-Joachim Partsch</name>
<affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Städtische Kliniken Esslingen, Klinik für Kinder und Jugendliche</s1>
<s2>Esslingen</s2>
<s3>DEU</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Esslingen</wicri:noRegion>
<wicri:noRegion>Klinik für Kinder und Jugendliche</wicri:noRegion>
<wicri:noRegion>Esslingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Plauchu, Henry" sort="Plauchu, Henry" uniqKey="Plauchu H" first="Henry" last="Plauchu">Henry Plauchu</name>
<affiliation wicri:level="3"><inist:fA14 i1="21"><s1>Service de Génétique, Hôpital de l'Hôtel-Dieu</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rajab, Anna" sort="Rajab, Anna" uniqKey="Rajab A" first="Anna" last="Rajab">Anna Rajab</name>
<affiliation wicri:level="1"><inist:fA14 i1="22"><s1>Royal Hospital, Goverment of Muscat 113</s1>
<s2>Oman</s2>
<s3>ARE</s3>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Émirats arabes unis</country>
<wicri:noRegion>Oman</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rossi, Massimiliano" sort="Rossi, Massimiliano" uniqKey="Rossi M" first="Massimiliano" last="Rossi">Massimiliano Rossi</name>
<affiliation wicri:level="1"><inist:fA14 i1="23"><s1>Department of Pediatrics, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Naples</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name>
<affiliation wicri:level="1"><inist:fA14 i1="24"><s1>Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School</s1>
<s2>Westmead</s2>
<s3>AUS</s3>
<sZ>28 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Westmead</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Steichen Gersdorf, Elisabeth" sort="Steichen Gersdorf, Elisabeth" uniqKey="Steichen Gersdorf E" first="Elisabeth" last="Steichen-Gersdorf">Elisabeth Steichen-Gersdorf</name>
<affiliation wicri:level="1"><inist:fA14 i1="25"><s1>Universitätsklinik für Kinder-und Jugendheilkunde</s1>
<s2>Innsbruck</s2>
<s3>AUT</s3>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>Autriche</country>
<wicri:noRegion>Universitätsklinik für Kinder-und Jugendheilkunde</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stewart, Helen" sort="Stewart, Helen" uniqKey="Stewart H" first="Helen" last="Stewart">Helen Stewart</name>
</author>
<author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name>
</author>
<author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
</author>
<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>33 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>33 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">European journal of human genetics</title>
<title level="j" type="abbreviated">Eur. j. hum. genet.</title>
<idno type="ISSN">1018-4813</idno>
<imprint><date when="2009">2009</date>
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<seriesStmt><title level="j" type="main">European journal of human genetics</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome 6</term>
<term>Chromosome C6</term>
<term>Genetic diversity</term>
<term>Genetics</term>
<term>Isodisomy</term>
<term>Mutation</term>
<term>Paternal origin</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term>
<term>Diversité génétique</term>
<term>Syndrome</term>
<term>Origine paternelle</term>
<term>Isodisomie</term>
<term>Chromosome C6</term>
<term>Chromosome 6</term>
<term>Génétique</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of  mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.</div>
</front>
</TEI>
</record>

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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

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