Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium
Identifieur interne : 009121 ( Main/Exploration ); précédent : 009120; suivant : 009122Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium
Auteurs : Arjan P. M. De Brouwer [Pays-Bas] ; Helger G. Yntema [Pays-Bas] ; Tjitske Kleefstra [Pays-Bas] ; Dorien Lugtenberg [Pays-Bas] ; Astrid R. Oudakker [Pays-Bas] ; Bert B. A. De Vries [Pays-Bas] ; Hans Van Bokhoven [Pays-Bas] ; Hilde Van Esch [Belgique] ; Suzanne G. M. Frints [Belgique] ; Guy Froyen [Belgique] ; Jean-Pierre Fryns [Belgique] ; Martine Raynaud [France] ; Marie-Pierre Moizard [France] ; Nathalie Ronce [France] ; Anissa Bensalem [France] ; Claude Moraine [France] ; Karine Poirier [France] ; Laetitia Castelnau [France] ; Yoann Saillour [France] ; Thierry Bienvenu [France] ; Chérif Beldjord [France] ; Vincent Des Portes [France] ; Jamel Chelly [France] ; Gillian Turner [Australie] ; Tod Fullston [Australie] ; Jozef Gecz [Australie] ; Andreas W. Kuss [Allemagne] ; Andreas Tzschach [Allemagne] ; Lars Riff Jensen [Allemagne] ; Steffen Lenzner [Allemagne] ; Vera M. Kalscheuer [Allemagne] ; Hans-Hilger Ropers [Allemagne] ; Ben C. J. Hamel [Pays-Bas]Source :
- Human Mutation [ 1059-7794 ] ; 2007-02.
Descripteurs français
- Wicri :
- topic : Consortium, Génétique.
English descriptors
- KwdEn :
- Accession, Agtr2, Beldjord, Bienvenu, Billuart, Bokhoven, Briault, Brouwer, Candidate xlmr genes, Carrie, Cassiman, Chelly, Chromosome, Claes, Cohort, Consortium, Couvert, Esch, Euromrx, Euromrx consortium, Euromrx families, Exon, Female carriers, Fryns, Gecz, Gedeon, Genbank, Gendrot, Gene, Genet, Genet claes, Genet hamel, Genetics, Growth hormone deficiency, Hamel, Human genetics, Kalscheuer, Kleefstra, Kremer, Laumonnier, Linkage, Linkage interval, Lugtenberg, Mariman, Markers references, Mecp2, Mental retardation, Mental retardation genes, Moizard, Moraine, Mrxs, Mulley, Mutation, Mutation frequencies, Mutation frequency, Nonsyndromic, Number number gene, Obligate, Pericentromeric region, Porte, Pqbp1, Progressive spasticity, Raeymaekers, Raynaud, Recognizable features, Recurrence risks, Retardation, Retarded males, Ronce, Roper, Syndrome, Vinet, Vries, Xlmr, Xlmr genes, Yntema, Zemni.
- Teeft :
- Accession, Agtr2, Beldjord, Bienvenu, Billuart, Bokhoven, Briault, Brouwer, Candidate xlmr genes, Carrie, Cassiman, Chelly, Chromosome, Claes, Cohort, Consortium, Couvert, Esch, Euromrx, Euromrx consortium, Euromrx families, Exon, Female carriers, Fryns, Gecz, Gedeon, Genbank, Gendrot, Gene, Genet, Genet claes, Genet hamel, Genetics, Growth hormone deficiency, Hamel, Human genetics, Kalscheuer, Kleefstra, Kremer, Laumonnier, Linkage, Linkage interval, Lugtenberg, Mariman, Markers references, Mecp2, Mental retardation, Mental retardation genes, Moizard, Moraine, Mrxs, Mulley, Mutation, Mutation frequencies, Mutation frequency, Nonsyndromic, Number number gene, Obligate, Pericentromeric region, Porte, Pqbp1, Progressive spasticity, Raeymaekers, Raynaud, Recognizable features, Recurrence risks, Retardation, Retarded males, Ronce, Roper, Syndrome, Vinet, Vries, Xlmr, Xlmr genes, Yntema, Zemni.
Abstract
The EuroMRX family cohort consists of about 400 families with non‐syndromic and 200 families with syndromic X‐linked mental retardation (XLMR). After exclusion of Fragile X (Fra X) syndrome, probands from these families were tested for mutations in the coding sequence of 90 known and candidate XLMR genes. In total, 73 causative mutations were identified in 21 genes. For 42% of the families with obligate female carriers, the mental retardation phenotype could be explained by a mutation. There was no difference between families with (lod score >2) or without (lod score <2) significant linkage to the X chromosome. For families with two to five affected brothers (brother pair=BP families) only 17% of the MR could be explained. This is significantly lower (P=0.0067) than in families with obligate carrier females and indicates that the MR in about 40% (17/42) of the BP families is due to a single genetic defect on the X chromosome. The mutation frequency of XLMR genes in BP families is lower than can be expected on basis of the male to female ratio of patients with MR or observed recurrence risks. This might be explained by genetic risk factors on the X chromosome, resulting in a more complex etiology in a substantial portion of XLMR patients. The EuroMRX effort is the first attempt to unravel the molecular basis of cognitive dysfunction by large‐scale approaches in a large patient cohort. Our results show that it is now possible to identify 42% of the genetic defects in non‐syndromic and syndromic XLMR families with obligate female carriers. © 2007 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/humu.9482
Affiliations:
- Allemagne, Australie, Belgique, France, Pays-Bas
- Centre-Val de Loire, Gueldre, Région Centre, Île-de-France
- Nimègue, Paris, Tours
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Le document en format XML
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M." last="De Brouwer">Arjan P. M. De Brouwer</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Pays-Bas</country></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Correspondence address: Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. 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Oudakker</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B. A." last="De Vries">Bert B. A. De Vries</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></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="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre for Human Genetics, University Hospital Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Frints, Suzanne G M" sort="Frints, Suzanne G M" uniqKey="Frints S" first="Suzanne G. M." last="Frints">Suzanne G. M. Frints</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre for Human Genetics, University Hospital Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre for Human Genetics, University Hospital Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Fryns, Jean Ierre" sort="Fryns, Jean Ierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre for Human Genetics, University Hospital Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique, CHU Bretonneau, Tours</wicri:regionArea><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Moizard, Marie Ierre" sort="Moizard, Marie Ierre" uniqKey="Moizard M" first="Marie-Pierre" last="Moizard">Marie-Pierre Moizard</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique, CHU Bretonneau, Tours</wicri:regionArea><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Ronce, Nathalie" sort="Ronce, Nathalie" uniqKey="Ronce N" first="Nathalie" last="Ronce">Nathalie Ronce</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique, CHU Bretonneau, Tours</wicri:regionArea><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Bensalem, Anissa" sort="Bensalem, Anissa" uniqKey="Bensalem A" first="Anissa" last="Bensalem">Anissa Bensalem</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique, CHU Bretonneau, Tours</wicri:regionArea><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique, CHU Bretonneau, Tours</wicri:regionArea><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mental GPRM, 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="Castelnau, Laetitia" sort="Castelnau, Laetitia" uniqKey="Castelnau L" first="Laetitia" last="Castelnau">Laetitia Castelnau</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mental GPRM, 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="Saillour, Yoann" sort="Saillour, Yoann" uniqKey="Saillour Y" first="Yoann" last="Saillour">Yoann Saillour</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mental GPRM, 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="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mental GPRM, 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="Beldjord, Cherif" sort="Beldjord, Cherif" uniqKey="Beldjord C" first="Chérif" last="Beldjord">Chérif Beldjord</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mental GPRM, 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="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mental GPRM, 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="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mental GPRM, 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="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>NSW GOLD Service, Hunter Genetics, University of Newcastle, Waratah</wicri:regionArea><wicri:noRegion>Waratah</wicri:noRegion></affiliation></author><author><name sortKey="Fullston, Tod" sort="Fullston, Tod" uniqKey="Fullston T" first="Tod" last="Fullston">Tod Fullston</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Genetic Medicine, Women's and Children's Hospital, and Departments of Paediatrics and Molecular Biosciences, University of Adelaide, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Genetic Medicine, Women's and Children's Hospital, and Departments of Paediatrics and Molecular Biosciences, University of Adelaide, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Kuss, Andreas W" sort="Kuss, Andreas W" uniqKey="Kuss A" first="Andreas W." last="Kuss">Andreas W. Kuss</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin‐Dahlem</wicri:regionArea><wicri:noRegion>Berlin‐Dahlem</wicri:noRegion><wicri:noRegion>Berlin‐Dahlem</wicri:noRegion></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin‐Dahlem</wicri:regionArea><wicri:noRegion>Berlin‐Dahlem</wicri:noRegion><wicri:noRegion>Berlin‐Dahlem</wicri:noRegion></affiliation></author><author><name sortKey="Jensen, Lars Riff" sort="Jensen, Lars Riff" uniqKey="Jensen L" first="Lars Riff" last="Jensen">Lars Riff Jensen</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin‐Dahlem</wicri:regionArea><wicri:noRegion>Berlin‐Dahlem</wicri:noRegion><wicri:noRegion>Berlin‐Dahlem</wicri:noRegion></affiliation></author><author><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin‐Dahlem</wicri:regionArea><wicri:noRegion>Berlin‐Dahlem</wicri:noRegion><wicri:noRegion>Berlin‐Dahlem</wicri:noRegion></affiliation></author><author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M." last="Kalscheuer">Vera M. Kalscheuer</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin‐Dahlem</wicri:regionArea><wicri:noRegion>Berlin‐Dahlem</wicri:noRegion><wicri:noRegion>Berlin‐Dahlem</wicri:noRegion></affiliation></author><author><name sortKey="Ropers, Hans Ilger" sort="Ropers, Hans Ilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin‐Dahlem</wicri:regionArea><wicri:noRegion>Berlin‐Dahlem</wicri:noRegion><wicri:noRegion>Berlin‐Dahlem</wicri:noRegion></affiliation></author><author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">28</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="207">207</biblScope><biblScope unit="page" to="208">208</biblScope><biblScope unit="page-count">2</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-02">2007-02</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Accession</term><term>Agtr2</term><term>Beldjord</term><term>Bienvenu</term><term>Billuart</term><term>Bokhoven</term><term>Briault</term><term>Brouwer</term><term>Candidate xlmr genes</term><term>Carrie</term><term>Cassiman</term><term>Chelly</term><term>Chromosome</term><term>Claes</term><term>Cohort</term><term>Consortium</term><term>Couvert</term><term>Esch</term><term>Euromrx</term><term>Euromrx consortium</term><term>Euromrx families</term><term>Exon</term><term>Female carriers</term><term>Fryns</term><term>Gecz</term><term>Gedeon</term><term>Genbank</term><term>Gendrot</term><term>Gene</term><term>Genet</term><term>Genet claes</term><term>Genet hamel</term><term>Genetics</term><term>Growth hormone deficiency</term><term>Hamel</term><term>Human genetics</term><term>Kalscheuer</term><term>Kleefstra</term><term>Kremer</term><term>Laumonnier</term><term>Linkage</term><term>Linkage interval</term><term>Lugtenberg</term><term>Mariman</term><term>Markers references</term><term>Mecp2</term><term>Mental retardation</term><term>Mental retardation genes</term><term>Moizard</term><term>Moraine</term><term>Mrxs</term><term>Mulley</term><term>Mutation</term><term>Mutation frequencies</term><term>Mutation frequency</term><term>Nonsyndromic</term><term>Number number gene</term><term>Obligate</term><term>Pericentromeric region</term><term>Porte</term><term>Pqbp1</term><term>Progressive spasticity</term><term>Raeymaekers</term><term>Raynaud</term><term>Recognizable features</term><term>Recurrence risks</term><term>Retardation</term><term>Retarded males</term><term>Ronce</term><term>Roper</term><term>Syndrome</term><term>Vinet</term><term>Vries</term><term>Xlmr</term><term>Xlmr genes</term><term>Yntema</term><term>Zemni</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Accession</term><term>Agtr2</term><term>Beldjord</term><term>Bienvenu</term><term>Billuart</term><term>Bokhoven</term><term>Briault</term><term>Brouwer</term><term>Candidate xlmr genes</term><term>Carrie</term><term>Cassiman</term><term>Chelly</term><term>Chromosome</term><term>Claes</term><term>Cohort</term><term>Consortium</term><term>Couvert</term><term>Esch</term><term>Euromrx</term><term>Euromrx consortium</term><term>Euromrx families</term><term>Exon</term><term>Female carriers</term><term>Fryns</term><term>Gecz</term><term>Gedeon</term><term>Genbank</term><term>Gendrot</term><term>Gene</term><term>Genet</term><term>Genet claes</term><term>Genet hamel</term><term>Genetics</term><term>Growth hormone deficiency</term><term>Hamel</term><term>Human genetics</term><term>Kalscheuer</term><term>Kleefstra</term><term>Kremer</term><term>Laumonnier</term><term>Linkage</term><term>Linkage interval</term><term>Lugtenberg</term><term>Mariman</term><term>Markers references</term><term>Mecp2</term><term>Mental retardation</term><term>Mental retardation genes</term><term>Moizard</term><term>Moraine</term><term>Mrxs</term><term>Mulley</term><term>Mutation</term><term>Mutation frequencies</term><term>Mutation frequency</term><term>Nonsyndromic</term><term>Number number gene</term><term>Obligate</term><term>Pericentromeric region</term><term>Porte</term><term>Pqbp1</term><term>Progressive spasticity</term><term>Raeymaekers</term><term>Raynaud</term><term>Recognizable features</term><term>Recurrence risks</term><term>Retardation</term><term>Retarded males</term><term>Ronce</term><term>Roper</term><term>Syndrome</term><term>Vinet</term><term>Vries</term><term>Xlmr</term><term>Xlmr genes</term><term>Yntema</term><term>Zemni</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Consortium</term><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The EuroMRX family cohort consists of about 400 families with non‐syndromic and 200 families with syndromic X‐linked mental retardation (XLMR). After exclusion of Fragile X (Fra X) syndrome, probands from these families were tested for mutations in the coding sequence of 90 known and candidate XLMR genes. In total, 73 causative mutations were identified in 21 genes. For 42% of the families with obligate female carriers, the mental retardation phenotype could be explained by a mutation. There was no difference between families with (lod score >2) or without (lod score <2) significant linkage to the X chromosome. For families with two to five affected brothers (brother pair=BP families) only 17% of the MR could be explained. This is significantly lower (P=0.0067) than in families with obligate carrier females and indicates that the MR in about 40% (17/42) of the BP families is due to a single genetic defect on the X chromosome. The mutation frequency of XLMR genes in BP families is lower than can be expected on basis of the male to female ratio of patients with MR or observed recurrence risks. This might be explained by genetic risk factors on the X chromosome, resulting in a more complex etiology in a substantial portion of XLMR patients. The EuroMRX effort is the first attempt to unravel the molecular basis of cognitive dysfunction by large‐scale approaches in a large patient cohort. Our results show that it is now possible to identify 42% of the genetic defects in non‐syndromic and syndromic XLMR families with obligate female carriers. © 2007 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>France</li><li>Pays-Bas</li></country><region><li>Centre-Val de Loire</li><li>Gueldre</li><li>Région Centre</li><li>Île-de-France</li></region><settlement><li>Nimègue</li><li>Paris</li><li>Tours</li></settlement></list><tree><country name="Pays-Bas"><region name="Gueldre"><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name></region><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B. A." last="De Vries">Bert B. A. De Vries</name><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><name sortKey="Lugtenberg, Dorien" sort="Lugtenberg, Dorien" uniqKey="Lugtenberg D" first="Dorien" last="Lugtenberg">Dorien Lugtenberg</name><name sortKey="Oudakker, Astrid R" sort="Oudakker, Astrid R" uniqKey="Oudakker A" first="Astrid R." last="Oudakker">Astrid R. Oudakker</name><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. Yntema</name></country><country name="Belgique"><noRegion><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name></noRegion><name sortKey="Frints, Suzanne G M" sort="Frints, Suzanne G M" uniqKey="Frints S" first="Suzanne G. M." last="Frints">Suzanne G. M. Frints</name><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name><name sortKey="Fryns, Jean Ierre" sort="Fryns, Jean Ierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name></country><country name="France"><region name="Centre-Val de Loire"><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name></region><name sortKey="Beldjord, Cherif" sort="Beldjord, Cherif" uniqKey="Beldjord C" first="Chérif" last="Beldjord">Chérif Beldjord</name><name sortKey="Bensalem, Anissa" sort="Bensalem, Anissa" uniqKey="Bensalem A" first="Anissa" last="Bensalem">Anissa Bensalem</name><name sortKey="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name><name sortKey="Castelnau, Laetitia" sort="Castelnau, Laetitia" uniqKey="Castelnau L" first="Laetitia" last="Castelnau">Laetitia Castelnau</name><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name><name sortKey="Moizard, Marie Ierre" sort="Moizard, Marie Ierre" uniqKey="Moizard M" first="Marie-Pierre" last="Moizard">Marie-Pierre Moizard</name><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><name sortKey="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name><name sortKey="Ronce, Nathalie" sort="Ronce, Nathalie" uniqKey="Ronce N" first="Nathalie" last="Ronce">Nathalie Ronce</name><name sortKey="Saillour, Yoann" sort="Saillour, Yoann" uniqKey="Saillour Y" first="Yoann" last="Saillour">Yoann Saillour</name></country><country name="Australie"><noRegion><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name></noRegion><name sortKey="Fullston, Tod" sort="Fullston, Tod" uniqKey="Fullston T" first="Tod" last="Fullston">Tod Fullston</name><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name></country><country name="Allemagne"><noRegion><name sortKey="Kuss, Andreas W" sort="Kuss, Andreas W" uniqKey="Kuss A" first="Andreas W." last="Kuss">Andreas W. Kuss</name></noRegion><name sortKey="Jensen, Lars Riff" sort="Jensen, Lars Riff" uniqKey="Jensen L" first="Lars Riff" last="Jensen">Lars Riff Jensen</name><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M." last="Kalscheuer">Vera M. Kalscheuer</name><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name><name sortKey="Ropers, Hans Ilger" sort="Ropers, Hans Ilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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