Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
Identifieur interne : 007195 ( Main/Exploration ); précédent : 007194; suivant : 007196Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
Auteurs : Dorien Lugtenberg [Pays-Bas] ; Luiz Zangrande-Vieira [Brésil] ; Maria Kirchhoff [Danemark] ; Annabel C. Whibley [Royaume-Uni] ; Astrid R. Oudakker [Pays-Bas] ; Susanne Kjaergaard [Danemark] ; Angela M. Vianna-Morgante [Brésil] ; Tjitske Kleefstra [Pays-Bas] ; Mariken Ruiter [Pays-Bas] ; Fernanda S. Jehee [Brésil] ; Reinhard Ullmann [Allemagne] ; Charles E. Schwartz [États-Unis] ; Michael Stratton [Royaume-Uni] ; F. Lucy Raymond [Royaume-Uni] ; Joris A. Veltman [Pays-Bas] ; Terry Vrijenhoek [Pays-Bas] ; Rolph Pfundt [Pays-Bas] ; Janneke H. M. Schuurs-Hoeijmakers [Pays-Bas] ; Jayne Y. Hehir-Kwa [Pays-Bas] ; Guy Froyen [Belgique] ; Jamel Chelly [France] ; Hans Hilger Ropers [Allemagne] ; Claude Moraine [France] ; Jozef Gècz [Australie] ; Jeroen Knijnenburg [Pays-Bas] ; Sarina G. Kant [Pays-Bas] ; Ben C. J. Hamel [Pays-Bas] ; Carla Rosenberg [Brésil] ; Hans Van Bokhoven [Pays-Bas, Australie] ; Arjan P. M. De Brouwer [Pays-Bas]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2010-03.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Affymetrix, American journal, Array analysis, Bokhoven, Breakpoints, Brouwer, Chelly, Chromosome, Clinical genetics, Cluster, Cohort, Common feature, Control males, Copy number, Copy number variations, Copy numbers, Deletion, Deletion breakpoints, Duplication, Euromrx cohort, Fish experiments, Genet, Genet lugtenberg, Genetics, Genome, Genome browser, Genomic qpcr, Grant sponsor, Human chromosome, Human genetics, Igold, Igold consortium, Information table, Leiden university, Lower frequency, Lugtenberg, Male patients, Medical genetics part, Mental retardation, Mlpa, Motor development, Mutation, Netherlands, Nijmegen, Non homologous recombination, Online, Online version, Paralogous sequence variants, Primer, Radboud university nijmegen, Recurrent, Recurrent deletion, Reference genes, Relapse, Retardation, Roper, Santa clara, Schematic overview, Segmental, Segmental duplication, Segmental duplications, Segregation analysis, Sequence analysis, Sequence identity, Sequence variants, Spaca5 gene, Structural unit, Variations, Wellcome trust.
- Teeft :
- Affymetrix, American journal, Array analysis, Bokhoven, Breakpoints, Brouwer, Chelly, Chromosome, Clinical genetics, Cohort, Common feature, Control males, Copy number variations, Copy numbers, Deletion, Deletion breakpoints, Duplication, Euromrx cohort, Fish experiments, Genet, Genet lugtenberg, Genetics, Genome, Genome browser, Genomic qpcr, Grant sponsor, Human chromosome, Human genetics, Igold, Igold consortium, Information table, Leiden university, Lower frequency, Lugtenberg, Male patients, Medical genetics part, Mental retardation, Mlpa, Motor development, Mutation, Netherlands, Nijmegen, Online, Online version, Paralogous sequence variants, Primer, Radboud university nijmegen, Recurrent deletion, Reference genes, Retardation, Roper, Santa clara, Schematic overview, Segmental, Segmental duplication, Segmental duplications, Segregation analysis, Sequence analysis, Sequence identity, Sequence variants, Spaca5 gene, Wellcome trust.
Abstract
ZNF630 is a member of the primate‐specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating that the deletions resulted from non‐allelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630 deletions were identified. In total, there was a 1.6‐fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant (P‐value = 0.174). Conversely, a 1.9‐fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P‐value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation. © 2010 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.33292
Affiliations:
- Allemagne, Australie, Belgique, Brésil, Danemark, France, Pays-Bas, Royaume-Uni, États-Unis
- Berlin, Caroline du Sud, Centre-Val de Loire, Gueldre, Hollande-Méridionale, Hovedstaden, Région Centre, État de São Paulo, Île-de-France
- Berlin, Copenhague, Leyde, Nimègue, Paris, São Paulo, Tours
- Université Paris-Descartes, Université de São Paulo
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Le document en format XML
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Whibley</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cambridge Institute of Medical Research, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Oudakker, Astrid R" sort="Oudakker, Astrid R" uniqKey="Oudakker A" first="Astrid R." last="Oudakker">Astrid R. Oudakker</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, 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="Kjaergaard, Susanne" sort="Kjaergaard, Susanne" uniqKey="Kjaergaard S" first="Susanne" last="Kjaergaard">Susanne Kjaergaard</name><affiliation wicri:level="3"><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Rigshospitalet, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Vianna Organte, Angela M" sort="Vianna Organte, Angela M" uniqKey="Vianna Organte A" first="Angela M." last="Vianna-Morgante">Angela M. Vianna-Morgante</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, 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="Ruiter, Mariken" sort="Ruiter, Mariken" uniqKey="Ruiter M" first="Mariken" last="Ruiter">Mariken Ruiter</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, 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="Jehee, Fernanda S" sort="Jehee, Fernanda S" uniqKey="Jehee F" first="Fernanda S." last="Jehee">Fernanda S. Jehee</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Ullmann, Reinhard" sort="Ullmann, Reinhard" uniqKey="Ullmann R" first="Reinhard" last="Ullmann">Reinhard Ullmann</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Sud</region></placeName><wicri:cityArea>JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood</wicri:cityArea></affiliation></author><author><name sortKey="Stratton, Michael" sort="Stratton, Michael" uniqKey="Stratton M" first="Michael" last="Stratton">Michael Stratton</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cambridge Institute of Medical Research, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cancer Research, Surrey</wicri:regionArea><wicri:noRegion>Surrey</wicri:noRegion></affiliation></author><author><name sortKey="Raymond, F Lucy" sort="Raymond, F Lucy" uniqKey="Raymond F" first="F. Lucy" last="Raymond">F. Lucy Raymond</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cambridge Institute of Medical Research, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Veltman, Joris A" sort="Veltman, Joris A" uniqKey="Veltman J" first="Joris A." last="Veltman">Joris A. Veltman</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, 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="Vrijenhoek, Terry" sort="Vrijenhoek, Terry" uniqKey="Vrijenhoek T" first="Terry" last="Vrijenhoek">Terry Vrijenhoek</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, 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="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, 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="Schuurs Oeijmakers, Janneke H M" sort="Schuurs Oeijmakers, Janneke H M" uniqKey="Schuurs Oeijmakers J" first="Janneke H. M." last="Schuurs-Hoeijmakers">Janneke H. M. Schuurs-Hoeijmakers</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, 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="Hehir Wa, Jayne Y" sort="Hehir Wa, Jayne Y" uniqKey="Hehir Wa J" first="Jayne Y." last="Hehir-Kwa">Jayne Y. Hehir-Kwa</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, 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="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>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Centre for Human genetics, K.U. Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Institut Cochin, INSERM Unité 567, CNRS UMR 8104, Paris</wicri:regionArea><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="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans Hilger" last="Ropers">Hans Hilger Ropers</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</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>Centre Hospitalier Régional Universitaire de Tours, Service de Genetique, INSERM U930, 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="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gècz">Jozef Gècz</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Genetic Medicine, Women's and Children's Hospital, University of Adelaide, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Knijnenburg, Jeroen" sort="Knijnenburg, Jeroen" uniqKey="Knijnenburg J" first="Jeroen" last="Knijnenburg">Jeroen Knijnenburg</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Molecular Cell Biology, Leiden University Medical Center, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Kant, Sarina G" sort="Kant, Sarina G" uniqKey="Kant S" first="Sarina G." last="Kant">Sarina G. Kant</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Center, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></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, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, 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="Rosenberg, Carla" sort="Rosenberg, Carla" uniqKey="Rosenberg C" first="Carla" last="Rosenberg">Carla Rosenberg</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Brésil</country><wicri:regionArea>A.C. Camargo Hospital, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</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, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, 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 xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, University of Adelaide, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><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><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, 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—855, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">152A</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="638">638</biblScope><biblScope unit="page" to="645">645</biblScope><biblScope unit="page-count">8</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-03">2010-03</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Affymetrix</term><term>American journal</term><term>Array analysis</term><term>Bokhoven</term><term>Breakpoints</term><term>Brouwer</term><term>Chelly</term><term>Chromosome</term><term>Clinical genetics</term><term>Cluster</term><term>Cohort</term><term>Common feature</term><term>Control males</term><term>Copy number</term><term>Copy number variations</term><term>Copy numbers</term><term>Deletion</term><term>Deletion breakpoints</term><term>Duplication</term><term>Euromrx cohort</term><term>Fish experiments</term><term>Genet</term><term>Genet lugtenberg</term><term>Genetics</term><term>Genome</term><term>Genome browser</term><term>Genomic qpcr</term><term>Grant sponsor</term><term>Human chromosome</term><term>Human genetics</term><term>Igold</term><term>Igold consortium</term><term>Information table</term><term>Leiden university</term><term>Lower frequency</term><term>Lugtenberg</term><term>Male patients</term><term>Medical genetics part</term><term>Mental retardation</term><term>Mlpa</term><term>Motor development</term><term>Mutation</term><term>Netherlands</term><term>Nijmegen</term><term>Non homologous recombination</term><term>Online</term><term>Online version</term><term>Paralogous sequence variants</term><term>Primer</term><term>Radboud university nijmegen</term><term>Recurrent</term><term>Recurrent deletion</term><term>Reference genes</term><term>Relapse</term><term>Retardation</term><term>Roper</term><term>Santa clara</term><term>Schematic overview</term><term>Segmental</term><term>Segmental duplication</term><term>Segmental duplications</term><term>Segregation analysis</term><term>Sequence analysis</term><term>Sequence identity</term><term>Sequence variants</term><term>Spaca5 gene</term><term>Structural unit</term><term>Variations</term><term>Wellcome trust</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Amas</term><term>Arriération mentale</term><term>Délétion</term><term>Motif structural</term><term>Nombre copie</term><term>Recombinaison non homologue</term><term>Récidivant</term><term>Récidive</term><term>Variation</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Affymetrix</term><term>American journal</term><term>Array analysis</term><term>Bokhoven</term><term>Breakpoints</term><term>Brouwer</term><term>Chelly</term><term>Chromosome</term><term>Clinical genetics</term><term>Cohort</term><term>Common feature</term><term>Control males</term><term>Copy number variations</term><term>Copy numbers</term><term>Deletion</term><term>Deletion breakpoints</term><term>Duplication</term><term>Euromrx cohort</term><term>Fish experiments</term><term>Genet</term><term>Genet lugtenberg</term><term>Genetics</term><term>Genome</term><term>Genome browser</term><term>Genomic qpcr</term><term>Grant sponsor</term><term>Human chromosome</term><term>Human genetics</term><term>Igold</term><term>Igold consortium</term><term>Information table</term><term>Leiden university</term><term>Lower frequency</term><term>Lugtenberg</term><term>Male patients</term><term>Medical genetics part</term><term>Mental retardation</term><term>Mlpa</term><term>Motor development</term><term>Mutation</term><term>Netherlands</term><term>Nijmegen</term><term>Online</term><term>Online version</term><term>Paralogous sequence variants</term><term>Primer</term><term>Radboud university nijmegen</term><term>Recurrent deletion</term><term>Reference genes</term><term>Retardation</term><term>Roper</term><term>Santa clara</term><term>Schematic overview</term><term>Segmental</term><term>Segmental duplication</term><term>Segmental duplications</term><term>Segregation analysis</term><term>Sequence analysis</term><term>Sequence identity</term><term>Sequence variants</term><term>Spaca5 gene</term><term>Wellcome trust</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Pays-Bas</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">ZNF630 is a member of the primate‐specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating that the deletions resulted from non‐allelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630 deletions were identified. In total, there was a 1.6‐fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant (P‐value = 0.174). Conversely, a 1.9‐fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P‐value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation. © 2010 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>Brésil</li><li>Danemark</li><li>France</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Berlin</li><li>Caroline du Sud</li><li>Centre-Val de Loire</li><li>Gueldre</li><li>Hollande-Méridionale</li><li>Hovedstaden</li><li>Région Centre</li><li>État de São Paulo</li><li>Île-de-France</li></region><settlement><li>Berlin</li><li>Copenhague</li><li>Leyde</li><li>Nimègue</li><li>Paris</li><li>São Paulo</li><li>Tours</li></settlement><orgName><li>Université Paris-Descartes</li><li>Université de São Paulo</li></orgName></list><tree><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Lugtenberg, Dorien" sort="Lugtenberg, Dorien" uniqKey="Lugtenberg D" first="Dorien" last="Lugtenberg">Dorien Lugtenberg</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 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="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="Hehir Wa, Jayne Y" sort="Hehir Wa, Jayne Y" uniqKey="Hehir Wa J" first="Jayne Y." last="Hehir-Kwa">Jayne Y. Hehir-Kwa</name><name sortKey="Kant, Sarina G" sort="Kant, Sarina G" uniqKey="Kant S" first="Sarina G." last="Kant">Sarina G. Kant</name><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><name sortKey="Knijnenburg, Jeroen" sort="Knijnenburg, Jeroen" uniqKey="Knijnenburg J" first="Jeroen" last="Knijnenburg">Jeroen Knijnenburg</name><name sortKey="Oudakker, Astrid R" sort="Oudakker, Astrid R" uniqKey="Oudakker A" first="Astrid R." last="Oudakker">Astrid R. Oudakker</name><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name><name sortKey="Ruiter, Mariken" sort="Ruiter, Mariken" uniqKey="Ruiter M" first="Mariken" last="Ruiter">Mariken Ruiter</name><name sortKey="Schuurs Oeijmakers, Janneke H M" sort="Schuurs Oeijmakers, Janneke H M" uniqKey="Schuurs Oeijmakers J" first="Janneke H. M." last="Schuurs-Hoeijmakers">Janneke H. M. Schuurs-Hoeijmakers</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="Veltman, Joris A" sort="Veltman, Joris A" uniqKey="Veltman J" first="Joris A." last="Veltman">Joris A. Veltman</name><name sortKey="Vrijenhoek, Terry" sort="Vrijenhoek, Terry" uniqKey="Vrijenhoek T" first="Terry" last="Vrijenhoek">Terry Vrijenhoek</name></country><country name="Brésil"><region name="État de São Paulo"><name sortKey="Zangrande Ieira, Luiz" sort="Zangrande Ieira, Luiz" uniqKey="Zangrande Ieira L" first="Luiz" last="Zangrande-Vieira">Luiz Zangrande-Vieira</name></region><name sortKey="Jehee, Fernanda S" sort="Jehee, Fernanda S" uniqKey="Jehee F" first="Fernanda S." last="Jehee">Fernanda S. Jehee</name><name sortKey="Rosenberg, Carla" sort="Rosenberg, Carla" uniqKey="Rosenberg C" first="Carla" last="Rosenberg">Carla Rosenberg</name><name sortKey="Rosenberg, Carla" sort="Rosenberg, Carla" uniqKey="Rosenberg C" first="Carla" last="Rosenberg">Carla Rosenberg</name><name sortKey="Vianna Organte, Angela M" sort="Vianna Organte, Angela M" uniqKey="Vianna Organte A" first="Angela M." last="Vianna-Morgante">Angela M. Vianna-Morgante</name></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Kirchhoff, Maria" sort="Kirchhoff, Maria" uniqKey="Kirchhoff M" first="Maria" last="Kirchhoff">Maria Kirchhoff</name></region><name sortKey="Kjaergaard, Susanne" sort="Kjaergaard, Susanne" uniqKey="Kjaergaard S" first="Susanne" last="Kjaergaard">Susanne Kjaergaard</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Whibley, Annabel C" sort="Whibley, Annabel C" uniqKey="Whibley A" first="Annabel C." last="Whibley">Annabel C. Whibley</name></noRegion><name sortKey="Raymond, F Lucy" sort="Raymond, F Lucy" uniqKey="Raymond F" first="F. Lucy" last="Raymond">F. Lucy Raymond</name><name sortKey="Stratton, Michael" sort="Stratton, Michael" uniqKey="Stratton M" first="Michael" last="Stratton">Michael Stratton</name><name sortKey="Stratton, Michael" sort="Stratton, Michael" uniqKey="Stratton M" first="Michael" last="Stratton">Michael Stratton</name></country><country name="Allemagne"><region name="Berlin"><name sortKey="Ullmann, Reinhard" sort="Ullmann, Reinhard" uniqKey="Ullmann R" first="Reinhard" last="Ullmann">Reinhard Ullmann</name></region><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans Hilger" last="Ropers">Hans Hilger Ropers</name></country><country name="États-Unis"><region name="Caroline du Sud"><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name></region></country><country name="Belgique"><noRegion><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name></region><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name></country><country name="Australie"><noRegion><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gècz">Jozef Gècz</name></noRegion><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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