AustralieFrV1, PascalFrancis, Corpus, bibRecord, 005782

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 : 005782 ( PascalFrancis/Corpus ); précédent : 005781; suivant : 005783

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

Auteurs : A-M Lossi ; F. Laugier-Anfossi ; D. Depetris ; J. Gecz ; A. Gedeon ; F. Kooy ; C. Schwartz ; M-G Mattei ; M-F Croquette ; L. Villard

Source :

Journal of medical genetics [ 0022-2593 ] ; 2002.

RBID : Pascal:02-0271268

Descripteurs français

Pascal (Inist)
- Translocation chromosomique, Chromosome X, Caractère lié au sexe, Arriération mentale, Phénotype, Chromosome G21, Syndrome complexe, Cartographie, Carte génétique, Point cassure, Fluorescence, In situ, DNA, Expression génique, Gène, Femelle, Homme, Autosome, Fragment, Exon, RNA messager, Cellule.

English descriptors

KwdEn :
- Autosome, Breakpoint, Cartography, Cell, Chromosome G21, Chromosome translocation, Complex syndrome, DNA, Exon, Female, Fluorescence, Fragment, Gene, Gene expression, Genetic mapping, Human, In situ, Mental retardation, Messenger RNA, Phenotype, Sex linked character, X-Chromosome.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 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`
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A11	`04`	`1`		`@1 GECZ (J.)`
A11	`05`	`1`		`@1 GEDEON (A.)`
A11	`06`	`1`		`@1 KOOY (F.)`
A11	`07`	`1`		`@1 SCHWARTZ (C.)`
A11	`08`	`1`		`@1 MATTEI (M-G)`
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A11	`10`	`1`		`@1 VILLARD (L.)`
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A14	`02`			`@1 Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road @2 North Adelaide, SA 5006 @3 AUS @Z 4 aut. @Z 5 aut.`
A14	`03`			`@1 Department of Paediatrics, Adelaide University @2 Adelaide @3 AUS @Z 4 aut. @Z 5 aut.`
A14	`04`			`@1 Department of Medical Genetics, University of Antwerp, Universiteitsplein 1 @2 2610 Antwerp @3 BEL @Z 6 aut.`
A14	`05`			`@1 J C Self Research Institute, Greenwood Genetic Center, One Gregor Mendel Circle @2 Greenwood, SC 29646 @3 USA @Z 7 aut.`
A14	`06`			`@1 Centre de Génétique Chromosomique, Hôpital Saint-Antoine, 329 Bd Victor Hugo, BP 255 @2 59019 Lille @3 FRA @Z 9 aut.`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B23B`
C03	`01`	`X`	`FRE`	`@0 Translocation chromosomique @5 01`
C03	`01`	`X`	`ENG`	`@0 Chromosome translocation @5 01`
C03	`01`	`X`	`SPA`	`@0 Translocación cromosómica @5 01`
C03	`02`	`X`	`FRE`	`@0 Chromosome X @5 02`
C03	`02`	`X`	`ENG`	`@0 X-Chromosome @5 02 @6 «X»-Chromosome`
C03	`02`	`X`	`SPA`	`@0 Cromosoma X @5 02`
C03	`03`	`X`	`FRE`	`@0 Caractère lié au sexe @5 03`
C03	`03`	`X`	`ENG`	`@0 Sex linked character @5 03`
C03	`03`	`X`	`SPA`	`@0 Carácter ligado al sexo @5 03`
C03	`04`	`X`	`FRE`	`@0 Arriération mentale @5 04`
C03	`04`	`X`	`ENG`	`@0 Mental retardation @5 04`
C03	`04`	`X`	`SPA`	`@0 Retraso mental @5 04`
C03	`05`	`X`	`FRE`	`@0 Phénotype @5 05`
C03	`05`	`X`	`ENG`	`@0 Phenotype @5 05`
C03	`05`	`X`	`SPA`	`@0 Fenotipo @5 05`
C03	`06`	`X`	`FRE`	`@0 Chromosome G21 @5 06`
C03	`06`	`X`	`ENG`	`@0 Chromosome G21 @5 06`
C03	`06`	`X`	`SPA`	`@0 Cromosoma G21 @5 06`
C03	`07`	`X`	`FRE`	`@0 Syndrome complexe @5 07`
C03	`07`	`X`	`ENG`	`@0 Complex syndrome @5 07`
C03	`07`	`X`	`SPA`	`@0 Síndrome complejo @5 07`
C03	`08`	`X`	`FRE`	`@0 Cartographie @5 08`
C03	`08`	`X`	`ENG`	`@0 Cartography @5 08`
C03	`08`	`X`	`SPA`	`@0 Cartografía @5 08`
C03	`09`	`X`	`FRE`	`@0 Carte génétique @5 09`
C03	`09`	`X`	`ENG`	`@0 Genetic mapping @5 09`
C03	`09`	`X`	`SPA`	`@0 Mapa genético @5 09`
C03	`10`	`X`	`FRE`	`@0 Point cassure @5 11`
C03	`10`	`X`	`ENG`	`@0 Breakpoint @5 11`
C03	`10`	`X`	`SPA`	`@0 Punto ruptura @5 11`
C03	`11`	`X`	`FRE`	`@0 Fluorescence @5 12`
C03	`11`	`X`	`ENG`	`@0 Fluorescence @5 12`
C03	`11`	`X`	`SPA`	`@0 Fluorescencia @5 12`
C03	`12`	`X`	`FRE`	`@0 In situ @5 14`
C03	`12`	`X`	`ENG`	`@0 In situ @5 14`
C03	`12`	`X`	`SPA`	`@0 In situ @5 14`
C03	`13`	`X`	`FRE`	`@0 DNA @5 15`
C03	`13`	`X`	`ENG`	`@0 DNA @5 15`
C03	`13`	`X`	`SPA`	`@0 DNA @5 15`
C03	`14`	`X`	`FRE`	`@0 Expression génique @5 17`
C03	`14`	`X`	`ENG`	`@0 Gene expression @5 17`
C03	`14`	`X`	`SPA`	`@0 Expresión genética @5 17`
C03	`15`	`X`	`FRE`	`@0 Gène @5 18`
C03	`15`	`X`	`ENG`	`@0 Gene @5 18`
C03	`15`	`X`	`SPA`	`@0 Gen @5 18`
C03	`16`	`X`	`FRE`	`@0 Femelle @5 19`
C03	`16`	`X`	`ENG`	`@0 Female @5 19`
C03	`16`	`X`	`SPA`	`@0 Hembra @5 19`
C03	`17`	`X`	`FRE`	`@0 Homme @5 20`
C03	`17`	`X`	`ENG`	`@0 Human @5 20`
C03	`17`	`X`	`SPA`	`@0 Hombre @5 20`
C03	`18`	`X`	`FRE`	`@0 Autosome @5 21`
C03	`18`	`X`	`ENG`	`@0 Autosome @5 21`
C03	`18`	`X`	`SPA`	`@0 Autosoma @5 21`
C03	`19`	`X`	`FRE`	`@0 Fragment @5 22`
C03	`19`	`X`	`ENG`	`@0 Fragment @5 22`
C03	`19`	`X`	`SPA`	`@0 Fragmento @5 22`
C03	`20`	`X`	`FRE`	`@0 Exon @5 23`
C03	`20`	`X`	`ENG`	`@0 Exon @5 23`
C03	`20`	`X`	`SPA`	`@0 Exón @5 23`
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C03	`21`	`X`	`ENG`	`@0 Messenger RNA @5 24`
C03	`21`	`X`	`SPA`	`@0 RNA mensajero @5 24`
C03	`22`	`X`	`FRE`	`@0 Cellule @5 35`
C03	`22`	`X`	`ENG`	`@0 Cell @5 35`
C03	`22`	`X`	`SPA`	`@0 Célula @5 35`
C07	`01`	`X`	`FRE`	`@0 Chromosome anormal`
C07	`01`	`X`	`ENG`	`@0 Abnormal chromosome`
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C07	`02`	`X`	`ENG`	`@0 Chromosomal aberration`
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C07	`03`	`X`	`FRE`	`@0 Déficience intellectuelle @5 39`
C07	`03`	`X`	`ENG`	`@0 Intellectual deficiency @5 39`
C07	`03`	`X`	`SPA`	`@0 Deficiencia intelectual @5 39`
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C07	`04`	`X`	`ENG`	`@0 Developmental disorder @5 40`
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N21				`@1 161`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 02-0271268 INIST
ET :	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
AU :	LOSSI (A-M); LAUGIER-ANFOSSI (F.); DEPETRIS (D.); GECZ (J.); GEDEON (A.); KOOY (F.); SCHWARTZ (C.); MATTEI (M-G); CROQUETTE (M-F); VILLARD (L.)
AF :	Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin/13385 Marseille/France (1 aut., 2 aut., 3 aut., 8 aut., 10 aut.); Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road/North Adelaide, SA 5006/Australie (4 aut., 5 aut.); Department of Paediatrics, Adelaide University/Adelaide/Australie (4 aut., 5 aut.); Department of Medical Genetics, University of Antwerp, Universiteitsplein 1/2610 Antwerp/Belgique (6 aut.); J C Self Research Institute, Greenwood Genetic Center, One Gregor Mendel Circle/Greenwood, SC 29646/Etats-Unis (7 aut.); Centre de Génétique Chromosomique, Hôpital Saint-Antoine, 329 Bd Victor Hugo, BP 255/59019 Lille/France (9 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Journal of medical genetics; ISSN 0022-2593; Coden JMDGAE; Royaume-Uni; Da. 2002; Vol. 39; No. 2; Pp. 113-117; Bibl. 30 ref.
LA :	Anglais
EA :	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.
CC :	002B23B
FD :	Translocation chromosomique; Chromosome X; Caractère lié au sexe; Arriération mentale; Phénotype; Chromosome G21; Syndrome complexe; Cartographie; Carte génétique; Point cassure; Fluorescence; In situ; DNA; Expression génique; Gène; Femelle; Homme; Autosome; Fragment; Exon; RNA messager; Cellule
FG :	Chromosome anormal; Aberration chromosomique; Déficience intellectuelle; Trouble développement
ED :	Chromosome translocation; X-Chromosome; Sex linked character; Mental retardation; Phenotype; Chromosome G21; Complex syndrome; Cartography; Genetic mapping; Breakpoint; Fluorescence; In situ; DNA; Gene expression; Gene; Female; Human; Autosome; Fragment; Exon; Messenger RNA; Cell
EG :	Abnormal chromosome; Chromosomal aberration; Intellectual deficiency; Developmental disorder
SD :	Translocación cromosómica; Cromosoma X; Carácter ligado al sexo; Retraso mental; Fenotipo; Cromosoma G21; Síndrome complejo; Cartografía; Mapa genético; Punto ruptura; Fluorescencia; In situ; DNA; Expresión genética; Gen; Hembra; Hombre; Autosoma; Fragmento; Exón; RNA mensajero; Célula
LO :	INIST-12125.354000102251010060
ID :	02-0271268

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Pascal:02-0271268

Le document en format XML

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<author><name sortKey="Schwartz, C" sort="Schwartz, C" uniqKey="Schwartz C" first="C." last="Schwartz">C. Schwartz</name>
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<s2>13385 Marseille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
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<author><name sortKey="Croquette, M F" sort="Croquette, M F" uniqKey="Croquette M" first="M-F" last="Croquette">M-F Croquette</name>
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<s2>59019 Lille</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
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<author><name sortKey="Villard, L" sort="Villard, L" uniqKey="Villard L" first="L." last="Villard">L. Villard</name>
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<s2>13385 Marseille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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</title>
<author><name sortKey="Lossi, A M" sort="Lossi, A M" uniqKey="Lossi A" first="A-M" last="Lossi">A-M Lossi</name>
<affiliation><inist:fA14 i1="01"><s1>Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin</s1>
<s2>13385 Marseille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Laugier Anfossi, F" sort="Laugier Anfossi, F" uniqKey="Laugier Anfossi F" first="F." last="Laugier-Anfossi">F. Laugier-Anfossi</name>
<affiliation><inist:fA14 i1="01"><s1>Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin</s1>
<s2>13385 Marseille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Depetris, D" sort="Depetris, D" uniqKey="Depetris D" first="D." last="Depetris">D. Depetris</name>
<affiliation><inist:fA14 i1="01"><s1>Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin</s1>
<s2>13385 Marseille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Gecz, J" sort="Gecz, J" uniqKey="Gecz J" first="J." last="Gecz">J. Gecz</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road</s1>
<s2>North Adelaide, SA 5006</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>Department of Paediatrics, Adelaide University</s1>
<s2>Adelaide</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Gedeon, A" sort="Gedeon, A" uniqKey="Gedeon A" first="A." last="Gedeon">A. Gedeon</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road</s1>
<s2>North Adelaide, SA 5006</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>Department of Paediatrics, Adelaide University</s1>
<s2>Adelaide</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kooy, F" sort="Kooy, F" uniqKey="Kooy F" first="F." last="Kooy">F. Kooy</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Medical Genetics, University of Antwerp, Universiteitsplein 1</s1>
<s2>2610 Antwerp</s2>
<s3>BEL</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Schwartz, C" sort="Schwartz, C" uniqKey="Schwartz C" first="C." last="Schwartz">C. Schwartz</name>
<affiliation><inist:fA14 i1="05"><s1>J C Self Research Institute, Greenwood Genetic Center, One Gregor Mendel Circle</s1>
<s2>Greenwood, SC 29646</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="01"><s1>Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin</s1>
<s2>13385 Marseille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="06"><s1>Centre de Génétique Chromosomique, Hôpital Saint-Antoine, 329 Bd Victor Hugo, BP 255</s1>
<s2>59019 Lille</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Villard, L" sort="Villard, L" uniqKey="Villard L" first="L." last="Villard">L. Villard</name>
<affiliation><inist:fA14 i1="01"><s1>Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin</s1>
<s2>13385 Marseille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Journal of medical genetics</title>
<title level="j" type="abbreviated">J. med. genet.</title>
<idno type="ISSN">0022-2593</idno>
<imprint><date when="2002">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Journal of medical genetics</title>
<title level="j" type="abbreviated">J. med. genet.</title>
<idno type="ISSN">0022-2593</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autosome</term>
<term>Breakpoint</term>
<term>Cartography</term>
<term>Cell</term>
<term>Chromosome G21</term>
<term>Chromosome translocation</term>
<term>Complex syndrome</term>
<term>DNA</term>
<term>Exon</term>
<term>Female</term>
<term>Fluorescence</term>
<term>Fragment</term>
<term>Gene</term>
<term>Gene expression</term>
<term>Genetic mapping</term>
<term>Human</term>
<term>In situ</term>
<term>Mental retardation</term>
<term>Messenger RNA</term>
<term>Phenotype</term>
<term>Sex linked character</term>
<term>X-Chromosome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Translocation chromosomique</term>
<term>Chromosome X</term>
<term>Caractère lié au sexe</term>
<term>Arriération mentale</term>
<term>Phénotype</term>
<term>Chromosome G21</term>
<term>Syndrome complexe</term>
<term>Cartographie</term>
<term>Carte génétique</term>
<term>Point cassure</term>
<term>Fluorescence</term>
<term>In situ</term>
<term>DNA</term>
<term>Expression génique</term>
<term>Gène</term>
<term>Femelle</term>
<term>Homme</term>
<term>Autosome</term>
<term>Fragment</term>
<term>Exon</term>
<term>RNA messager</term>
<term>Cellule</term>
</keywords>
</textClass>
</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>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0022-2593</s0>
</fA01>
<fA02 i1="01"><s0>JMDGAE</s0>
</fA02>
<fA03 i2="1"><s0>J. med. genet.</s0>
</fA03>
<fA05><s2>39</s2>
</fA05>
<fA06><s2>2</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>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</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>LOSSI (A-M)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>LAUGIER-ANFOSSI (F.)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>DEPETRIS (D.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>GECZ (J.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>GEDEON (A.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>KOOY (F.)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>SCHWARTZ (C.)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>MATTEI (M-G)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>CROQUETTE (M-F)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>VILLARD (L.)</s1>
</fA11>
<fA14 i1="01"><s1>Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin</s1>
<s2>13385 Marseille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road</s1>
<s2>North Adelaide, SA 5006</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Paediatrics, Adelaide University</s1>
<s2>Adelaide</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Medical Genetics, University of Antwerp, Universiteitsplein 1</s1>
<s2>2610 Antwerp</s2>
<s3>BEL</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>J C Self Research Institute, Greenwood Genetic Center, One Gregor Mendel Circle</s1>
<s2>Greenwood, SC 29646</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Centre de Génétique Chromosomique, Hôpital Saint-Antoine, 329 Bd Victor Hugo, BP 255</s1>
<s2>59019 Lille</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA20><s1>113-117</s1>
</fA20>
<fA21><s1>2002</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>12125</s2>
<s5>354000102251010060</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2002 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>30 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>02-0271268</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Journal of medical genetics</s0>
</fA64>
<fA66 i1="01"><s0>GBR</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B23B</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Translocation chromosomique</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Chromosome translocation</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Translocación cromosómica</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Chromosome X</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>X-Chromosome</s0>
<s5>02</s5>
<s6>«X»-Chromosome</s6>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Cromosoma X</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Caractère lié au sexe</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Sex linked character</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Carácter ligado al sexo</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Arriération mentale</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Mental retardation</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Retraso mental</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Chromosome G21</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Chromosome G21</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Cromosoma G21</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Syndrome complexe</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Complex syndrome</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Síndrome complejo</s0>
<s5>07</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Cartographie</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Cartography</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Cartografía</s0>
<s5>08</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Carte génétique</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Genetic mapping</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Mapa genético</s0>
<s5>09</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Point cassure</s0>
<s5>11</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Breakpoint</s0>
<s5>11</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Punto ruptura</s0>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Fluorescence</s0>
<s5>12</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Fluorescence</s0>
<s5>12</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Fluorescencia</s0>
<s5>12</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>In situ</s0>
<s5>14</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG"><s0>In situ</s0>
<s5>14</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA"><s0>In situ</s0>
<s5>14</s5>
</fC03>
<fC03 i1="13" i2="X" l="FRE"><s0>DNA</s0>
<s5>15</s5>
</fC03>
<fC03 i1="13" i2="X" l="ENG"><s0>DNA</s0>
<s5>15</s5>
</fC03>
<fC03 i1="13" i2="X" l="SPA"><s0>DNA</s0>
<s5>15</s5>
</fC03>
<fC03 i1="14" i2="X" l="FRE"><s0>Expression génique</s0>
<s5>17</s5>
</fC03>
<fC03 i1="14" i2="X" l="ENG"><s0>Gene expression</s0>
<s5>17</s5>
</fC03>
<fC03 i1="14" i2="X" l="SPA"><s0>Expresión genética</s0>
<s5>17</s5>
</fC03>
<fC03 i1="15" i2="X" l="FRE"><s0>Gène</s0>
<s5>18</s5>
</fC03>
<fC03 i1="15" i2="X" l="ENG"><s0>Gene</s0>
<s5>18</s5>
</fC03>
<fC03 i1="15" i2="X" l="SPA"><s0>Gen</s0>
<s5>18</s5>
</fC03>
<fC03 i1="16" i2="X" l="FRE"><s0>Femelle</s0>
<s5>19</s5>
</fC03>
<fC03 i1="16" i2="X" l="ENG"><s0>Female</s0>
<s5>19</s5>
</fC03>
<fC03 i1="16" i2="X" l="SPA"><s0>Hembra</s0>
<s5>19</s5>
</fC03>
<fC03 i1="17" i2="X" l="FRE"><s0>Homme</s0>
<s5>20</s5>
</fC03>
<fC03 i1="17" i2="X" l="ENG"><s0>Human</s0>
<s5>20</s5>
</fC03>
<fC03 i1="17" i2="X" l="SPA"><s0>Hombre</s0>
<s5>20</s5>
</fC03>
<fC03 i1="18" i2="X" l="FRE"><s0>Autosome</s0>
<s5>21</s5>
</fC03>
<fC03 i1="18" i2="X" l="ENG"><s0>Autosome</s0>
<s5>21</s5>
</fC03>
<fC03 i1="18" i2="X" l="SPA"><s0>Autosoma</s0>
<s5>21</s5>
</fC03>
<fC03 i1="19" i2="X" l="FRE"><s0>Fragment</s0>
<s5>22</s5>
</fC03>
<fC03 i1="19" i2="X" l="ENG"><s0>Fragment</s0>
<s5>22</s5>
</fC03>
<fC03 i1="19" i2="X" l="SPA"><s0>Fragmento</s0>
<s5>22</s5>
</fC03>
<fC03 i1="20" i2="X" l="FRE"><s0>Exon</s0>
<s5>23</s5>
</fC03>
<fC03 i1="20" i2="X" l="ENG"><s0>Exon</s0>
<s5>23</s5>
</fC03>
<fC03 i1="20" i2="X" l="SPA"><s0>Exón</s0>
<s5>23</s5>
</fC03>
<fC03 i1="21" i2="X" l="FRE"><s0>RNA messager</s0>
<s5>24</s5>
</fC03>
<fC03 i1="21" i2="X" l="ENG"><s0>Messenger RNA</s0>
<s5>24</s5>
</fC03>
<fC03 i1="21" i2="X" l="SPA"><s0>RNA mensajero</s0>
<s5>24</s5>
</fC03>
<fC03 i1="22" i2="X" l="FRE"><s0>Cellule</s0>
<s5>35</s5>
</fC03>
<fC03 i1="22" i2="X" l="ENG"><s0>Cell</s0>
<s5>35</s5>
</fC03>
<fC03 i1="22" i2="X" l="SPA"><s0>Célula</s0>
<s5>35</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Chromosome anormal</s0>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Abnormal chromosome</s0>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Cromosoma anormal</s0>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Aberration chromosomique</s0>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Chromosomal aberration</s0>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Aberración cromosómica</s0>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Déficience intellectuelle</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Intellectual deficiency</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Deficiencia intelectual</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Trouble développement</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Developmental disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno desarrollo</s0>
<s5>40</s5>
</fC07>
<fN21><s1>161</s1>
</fN21>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 02-0271268 INIST</NO>
<ET>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</ET>
<AU>LOSSI (A-M); LAUGIER-ANFOSSI (F.); DEPETRIS (D.); GECZ (J.); GEDEON (A.); KOOY (F.); SCHWARTZ (C.); MATTEI (M-G); CROQUETTE (M-F); VILLARD (L.)</AU>
<AF>Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin/13385 Marseille/France (1 aut., 2 aut., 3 aut., 8 aut., 10 aut.); Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road/North Adelaide, SA 5006/Australie (4 aut., 5 aut.); Department of Paediatrics, Adelaide University/Adelaide/Australie (4 aut., 5 aut.); Department of Medical Genetics, University of Antwerp, Universiteitsplein 1/2610 Antwerp/Belgique (6 aut.); J C Self Research Institute, Greenwood Genetic Center, One Gregor Mendel Circle/Greenwood, SC 29646/Etats-Unis (7 aut.); Centre de Génétique Chromosomique, Hôpital Saint-Antoine, 329 Bd Victor Hugo, BP 255/59019 Lille/France (9 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Journal of medical genetics; ISSN 0022-2593; Coden JMDGAE; Royaume-Uni; Da. 2002; Vol. 39; No. 2; Pp. 113-117; Bibl. 30 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B23B</CC>
<FD>Translocation chromosomique; Chromosome X; Caractère lié au sexe; Arriération mentale; Phénotype; Chromosome G21; Syndrome complexe; Cartographie; Carte génétique; Point cassure; Fluorescence; In situ; DNA; Expression génique; Gène; Femelle; Homme; Autosome; Fragment; Exon; RNA messager; Cellule</FD>
<FG>Chromosome anormal; Aberration chromosomique; Déficience intellectuelle; Trouble développement</FG>
<ED>Chromosome translocation; X-Chromosome; Sex linked character; Mental retardation; Phenotype; Chromosome G21; Complex syndrome; Cartography; Genetic mapping; Breakpoint; Fluorescence; In situ; DNA; Gene expression; Gene; Female; Human; Autosome; Fragment; Exon; Messenger RNA; Cell</ED>
<EG>Abnormal chromosome; Chromosomal aberration; Intellectual deficiency; Developmental disorder</EG>
<SD>Translocación cromosómica; Cromosoma X; Carácter ligado al sexo; Retraso mental; Fenotipo; Cromosoma G21; Síndrome complejo; Cartografía; Mapa genético; Punto ruptura; Fluorescencia; In situ; DNA; Expresión genética; Gen; Hembra; Hombre; Autosoma; Fragmento; Exón; RNA mensajero; Célula</SD>
<LO>INIST-12125.354000102251010060</LO>
<ID>02-0271268</ID>
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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

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

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