Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation
Identifieur interne : 00B445 ( Main/Exploration ); précédent : 00B444; suivant : 00B446Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation
Auteurs : A-M Lossi [France] ; F. Laugier-Anfossi [France] ; D. Depetris [France] ; J. Gecz [Australie] ; A. Gedeon [Australie] ; F. Kooy [Belgique] ; C. Schwartz [États-Unis] ; M-G Mattei [France] ; M-F Croquette [France] ; L. Villard [France]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2002-02.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Cartographie, Homme.
English descriptors
- KwdEn :
- Autosome, Balanced translocation, Breakpoint, Breakpoint region, Cartography, Cdna, Cell, Chromosome, Chromosome G21, Chromosome breakpoint, Chromosome inactivation, Chromosome translocation, Clone, Complex syndrome, DNA, Exon, Female, Female patient, Fish experiments, Fluorescence, Fragment, Gedeon, Gene, Gene expression, Genet, Genetic mapping, Genomic, Human, In situ, KLF8, Klf8, Klf8 cdna, Klf8 gene, Klf8 transcript, Kpni restriction fragment, Lymphocyte, MRX, non-syndromic X linked mental retardation, Mental retardation, Messenger RNA, Mutation, Mutation screening, Phenotype, Refined gene localization, Retardation, Sex linked character, Silico analysis, Translocation, Translocation breakpoint, Translocation patient, Unpublished data, X linked mental retardation, X-Chromosome, XLMR, X linked mental retardation, Xlmr, Xlmr families, translocation.
- Teeft :
- Balanced translocation, Breakpoint, Breakpoint region, Cdna, Chromosome, Chromosome breakpoint, Chromosome inactivation, Clone, Exon, Female patient, Fish experiments, Gedeon, Gene, Genet, Genomic, Klf8, Klf8 cdna, Klf8 gene, Klf8 transcript, Kpni restriction fragment, Lymphocyte, Mental retardation, Mutation, Mutation screening, Refined gene localization, Retardation, Silico analysis, Translocation, Translocation breakpoint, Translocation patient, Unpublished data, Xlmr, Xlmr families.
Abstract
Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a female patient with mental retardation and a balanced translocation involving chromosomes X and 21, t(X;21)(p11.2;q22.3). Physical mapping of the translocation breakpoint on the human X chromosome was performed using fluorescence in situ hybridisation. We have mapped the X chromosome breakpoint to a 21 kb DNA fragment upstream of the first exon of the KLF8 (ZNF741) gene in Xp11.21. We have subsequently shown that the KLF8 transcript is no longer detected in cells from the patient, although KLF8 expression is otherwise normally present in control lymphoblasts. Mutation screening of probands from 20 unrelated XLMR families linked to the proximal short arm of the human X chromosome failed to show any mutation in the coding region of the KLF8 gene.
Url:
DOI: 10.1136/jmg.39.2.113
Affiliations:
- Australie, Belgique, France, États-Unis
- Caroline du Sud, Hauts-de-France, Nord-Pas-de-Calais, Provence-Alpes-Côte d'Azur, Province d'Anvers, Région flamande
- Anvers, Lille, Marseille
- Université d'Anvers
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Le document en format XML
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Laugier-Anfossi</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin, 13385 Marseille Cedex 5</wicri:regionArea><wicri:noRegion>13385 Marseille Cedex 5</wicri:noRegion><wicri:noRegion>13385 Marseille Cedex 5</wicri:noRegion></affiliation></author><author><name sortKey="Depetris, D" sort="Depetris, D" uniqKey="Depetris D" first="D" last="Depetris">D. Depetris</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin, 13385 Marseille Cedex 5</wicri:regionArea><placeName><region type="region" nuts="2">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Gecz, J" sort="Gecz, J" uniqKey="Gecz J" first="J" last="Gecz">J. Gecz</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, Adelaide University, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Gedeon, A" sort="Gedeon, A" uniqKey="Gedeon A" first="A" last="Gedeon">A. Gedeon</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, Adelaide University, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Kooy, F" sort="Kooy, F" uniqKey="Kooy F" first="F" last="Kooy">F. Kooy</name><affiliation wicri:level="4"><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp</wicri:regionArea><orgName type="university">Université d'Anvers</orgName><placeName><settlement type="city">Anvers</settlement><region>Région flamande</region><region type="district" nuts="2">Province d'Anvers</region></placeName></affiliation></author><author><name sortKey="Schwartz, C" sort="Schwartz, C" uniqKey="Schwartz C" first="C" last="Schwartz">C. Schwartz</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>J C Self Research Institute, Greenwood Genetic Center, One Gregor Mendel Circle, Greenwood, SC 29646</wicri:regionArea><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Mattei, M G" sort="Mattei, M G" uniqKey="Mattei M" first="M-G" last="Mattei">M-G Mattei</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin, 13385 Marseille Cedex 5</wicri:regionArea><wicri:noRegion>13385 Marseille Cedex 5</wicri:noRegion><wicri:noRegion>13385 Marseille Cedex 5</wicri:noRegion></affiliation></author><author><name sortKey="Croquette, M F" sort="Croquette, M F" uniqKey="Croquette M" first="M-F" last="Croquette">M-F Croquette</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique Chromosomique, Hôpital Saint-Antoine, 329 Bd Victor Hugo, BP 255, 59019 Lille Cedex</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Villard, L" sort="Villard, L" uniqKey="Villard L" first="L" last="Villard">L. Villard</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin, 13385 Marseille Cedex 5</wicri:regionArea><wicri:noRegion>13385 Marseille Cedex 5</wicri:noRegion><wicri:noRegion>13385 Marseille Cedex 5</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2002-02">2002-02</date><biblScope unit="volume">39</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="113">113</biblScope></imprint><idno type="ISSN">0022-2593</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autosome</term><term>Balanced translocation</term><term>Breakpoint</term><term>Breakpoint region</term><term>Cartography</term><term>Cdna</term><term>Cell</term><term>Chromosome</term><term>Chromosome G21</term><term>Chromosome breakpoint</term><term>Chromosome inactivation</term><term>Chromosome translocation</term><term>Clone</term><term>Complex syndrome</term><term>DNA</term><term>Exon</term><term>Female</term><term>Female patient</term><term>Fish experiments</term><term>Fluorescence</term><term>Fragment</term><term>Gedeon</term><term>Gene</term><term>Gene expression</term><term>Genet</term><term>Genetic mapping</term><term>Genomic</term><term>Human</term><term>In situ</term><term>KLF8</term><term>Klf8</term><term>Klf8 cdna</term><term>Klf8 gene</term><term>Klf8 transcript</term><term>Kpni restriction fragment</term><term>Lymphocyte</term><term>MRX, non-syndromic X linked mental retardation</term><term>Mental retardation</term><term>Messenger RNA</term><term>Mutation</term><term>Mutation screening</term><term>Phenotype</term><term>Refined gene localization</term><term>Retardation</term><term>Sex linked character</term><term>Silico analysis</term><term>Translocation</term><term>Translocation breakpoint</term><term>Translocation patient</term><term>Unpublished data</term><term>X linked mental retardation</term><term>X-Chromosome</term><term>XLMR, X linked mental retardation</term><term>Xlmr</term><term>Xlmr families</term><term>translocation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term><term>Autosome</term><term>Caractère lié au sexe</term><term>Carte génétique</term><term>Cartographie</term><term>Cellule</term><term>Chromosome G21</term><term>Chromosome X</term><term>DNA</term><term>Exon</term><term>Expression génique</term><term>Femelle</term><term>Fluorescence</term><term>Fragment</term><term>Gène</term><term>Homme</term><term>In situ</term><term>Phénotype</term><term>Point cassure</term><term>RNA messager</term><term>Syndrome complexe</term><term>Translocation chromosomique</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Balanced translocation</term><term>Breakpoint</term><term>Breakpoint region</term><term>Cdna</term><term>Chromosome</term><term>Chromosome breakpoint</term><term>Chromosome inactivation</term><term>Clone</term><term>Exon</term><term>Female patient</term><term>Fish experiments</term><term>Gedeon</term><term>Gene</term><term>Genet</term><term>Genomic</term><term>Klf8</term><term>Klf8 cdna</term><term>Klf8 gene</term><term>Klf8 transcript</term><term>Kpni restriction fragment</term><term>Lymphocyte</term><term>Mental retardation</term><term>Mutation</term><term>Mutation screening</term><term>Refined gene localization</term><term>Retardation</term><term>Silico analysis</term><term>Translocation</term><term>Translocation breakpoint</term><term>Translocation patient</term><term>Unpublished data</term><term>Xlmr</term><term>Xlmr families</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Cartographie</term><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a female patient with mental retardation and a balanced translocation involving chromosomes X and 21, t(X;21)(p11.2;q22.3). Physical mapping of the translocation breakpoint on the human X chromosome was performed using fluorescence in situ hybridisation. We have mapped the X chromosome breakpoint to a 21 kb DNA fragment upstream of the first exon of the KLF8 (ZNF741) gene in Xp11.21. We have subsequently shown that the KLF8 transcript is no longer detected in cells from the patient, although KLF8 expression is otherwise normally present in control lymphoblasts. Mutation screening of probands from 20 unrelated XLMR families linked to the proximal short arm of the human X chromosome failed to show any mutation in the coding region of the KLF8 gene.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Belgique</li><li>France</li><li>États-Unis</li></country><region><li>Caroline du Sud</li><li>Hauts-de-France</li><li>Nord-Pas-de-Calais</li><li>Provence-Alpes-Côte d'Azur</li><li>Province d'Anvers</li><li>Région flamande</li></region><settlement><li>Anvers</li><li>Lille</li><li>Marseille</li></settlement><orgName><li>Université d'Anvers</li></orgName></list><tree><country name="France"><region name="Provence-Alpes-Côte d'Azur"><name sortKey="Lossi, A M" sort="Lossi, A M" uniqKey="Lossi A" first="A-M" last="Lossi">A-M Lossi</name></region><name sortKey="Croquette, M F" sort="Croquette, M F" uniqKey="Croquette M" first="M-F" last="Croquette">M-F Croquette</name><name sortKey="Depetris, D" sort="Depetris, D" uniqKey="Depetris D" first="D" last="Depetris">D. Depetris</name><name sortKey="Laugier Anfossi, F" sort="Laugier Anfossi, F" uniqKey="Laugier Anfossi F" first="F" last="Laugier-Anfossi">F. Laugier-Anfossi</name><name sortKey="Mattei, M G" sort="Mattei, M G" uniqKey="Mattei M" first="M-G" last="Mattei">M-G Mattei</name><name sortKey="Villard, L" sort="Villard, L" uniqKey="Villard L" first="L" last="Villard">L. Villard</name></country><country name="Australie"><noRegion><name sortKey="Gecz, J" sort="Gecz, J" uniqKey="Gecz J" first="J" last="Gecz">J. Gecz</name></noRegion><name sortKey="Gecz, J" sort="Gecz, J" uniqKey="Gecz J" first="J" last="Gecz">J. Gecz</name><name sortKey="Gedeon, A" sort="Gedeon, A" uniqKey="Gedeon A" first="A" last="Gedeon">A. Gedeon</name><name sortKey="Gedeon, A" sort="Gedeon, A" uniqKey="Gedeon A" first="A" last="Gedeon">A. Gedeon</name></country><country name="Belgique"><region name="Région flamande"><name sortKey="Kooy, F" sort="Kooy, F" uniqKey="Kooy F" first="F" last="Kooy">F. Kooy</name></region></country><country name="États-Unis"><region name="Caroline du Sud"><name sortKey="Schwartz, C" sort="Schwartz, C" uniqKey="Schwartz C" first="C" last="Schwartz">C. Schwartz</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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