AustralieFrV1, Main, Exploration, bibRecord, 00B118

Mutations in the ZNF41 gene are associated with cognitive deficits: Identification of a new candidate for X-linked mental retardation

Identifieur interne : 00B118 ( Main/Exploration ); précédent : 00B117; suivant : 00B119

Mutations in the ZNF41 gene are associated with cognitive deficits: Identification of a new candidate for X-linked mental retardation

Auteurs : Sarah A. Shoichet [Allemagne] ; Kirsten Hoffmann [Allemagne] ; Corinna Menzel [Allemagne] ; Udo Trautmann [Allemagne] ; Bettina Moser [Allemagne] ; Maria Hoeltzenbein [Allemagne] ; Bernard Echenne [France] ; Michael Partington [Australie] ; Hans Van Bokhoven [Pays-Bas] ; Claude Moraine [France] ; Jean-Pierre Fryns [Belgique] ; Jamel Chelly [France] ; Hans-Dieter Rott [Allemagne] ; Hans-Hilger Ropers [Allemagne] ; Vera M. Kalscheuer [Allemagne]

Source :

American journal of human genetics [ 0002-9297 ] ; 2003.

RBID : Pascal:04-0331307

Descripteurs français

Pascal (Inist)
- Trouble cognition, Mutation, Gène, Arriération mentale, Identification, Chromosome X, Caractère lié au sexe, Maladie héréditaire, Génétique, Homme.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Cognitive disorder, Gene, Genetic disease, Genetics, Human, Identification, Mental retardation, Mutation, Sex linked character, X-Chromosome.

Abstract

Nonsyndromic X-linked mental retardation (MRX) is defined by an X-linked inheritance pattern of low IQ, problems with adaptive behavior, and the absence of additional specific clinical features. The 13 MRX genes identified to date account for less than one-fifth of all MRX, suggesting that numerous gene defects cause the disorder in other families. In a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21), we have cloned the DNA fragment that contains the X-chromosomal and the autosomal break-point. In silico sequence analysis provided no indication of a causative role for the chromosome 7 breakpoint in mental retardation (MR), whereas, on the X chromosome, a zinc-finger gene, ZNF41, was found to be disrupted. Expression studies indicated that ZNF41 transcripts are absent in the patient cell line, suggesting that the mental disorder in this patient results from loss of functional ZNF41. Moreover, screening of a panel of patients with MRX led to the identification of two other ZNF41 mutations that were not found in healthy control individuals. A proline-to-leucine amino acid exchange is present in affected members of one family with MRX. A second family carries an intronic splice-site mutation that results in loss of specific ZNF41 splice variants. Wild-type ZNF41 contains a highly conserved transcriptional repressor domain that is linked to mechanisms of chromatin remodeling, a process that is defective in various other forms of MR. Our results suggest that ZNF41 is critical for cognitive development; further studies aim to elucidate the specific mechanisms by which ZNF41 alterations lead to MR.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180399

Affiliations:

Le document en format XML

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</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Institut Cochin de Génétique Moleculaire, Centre National de la Recherche Scientifique/INSERM, CHU Cochin</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rott, Hans Dieter" sort="Rott, Hans Dieter" uniqKey="Rott H" first="Hans-Dieter" last="Rott">Hans-Dieter Rott</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute of Human Genetics, University of Erlangen-Nuremberg</s1>
<s2>Erlangen-Nuremberg</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Erlangen-Nuremberg</wicri:noRegion>
<wicri:noRegion>University of Erlangen-Nuremberg</wicri:noRegion>
<wicri:noRegion>Erlangen-Nuremberg</wicri:noRegion>
</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"><inist:fA14 i1="01"><s1>Max-Planck-lnstitute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M." last="Kalscheuer">Vera M. Kalscheuer</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck-lnstitute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2003">2003</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cognitive disorder</term>
<term>Gene</term>
<term>Genetic disease</term>
<term>Genetics</term>
<term>Human</term>
<term>Identification</term>
<term>Mental retardation</term>
<term>Mutation</term>
<term>Sex linked character</term>
<term>X-Chromosome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Trouble cognition</term>
<term>Mutation</term>
<term>Gène</term>
<term>Arriération mentale</term>
<term>Identification</term>
<term>Chromosome X</term>
<term>Caractère lié au sexe</term>
<term>Maladie héréditaire</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Nonsyndromic X-linked mental retardation (MRX) is defined by an X-linked inheritance pattern of low IQ, problems with adaptive behavior, and the absence of additional specific clinical features. The 13 MRX genes identified to date account for less than one-fifth of all MRX, suggesting that numerous gene defects cause the disorder in other families. In a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21), we have cloned the DNA fragment that contains the X-chromosomal and the autosomal break-point. In silico sequence analysis provided no indication of a causative role for the chromosome 7 breakpoint in mental retardation (MR), whereas, on the X chromosome, a zinc-finger gene, ZNF41, was found to be disrupted. Expression studies indicated that ZNF41 transcripts are absent in the patient cell line, suggesting that the mental disorder in this patient results from loss of functional ZNF41. Moreover, screening of a panel of patients with MRX led to the identification of two other ZNF41 mutations that were not found in healthy control individuals. A proline-to-leucine amino acid exchange is present in affected members of one family with MRX. A second family carries an intronic splice-site mutation that results in loss of specific ZNF41 splice variants. Wild-type ZNF41 contains a highly conserved transcriptional repressor domain that is linked to mechanisms of chromatin remodeling, a process that is defective in various other forms of MR. Our results suggest that ZNF41 is critical for cognitive development; further studies aim to elucidate the specific mechanisms by which ZNF41 alterations lead to MR.</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>Berlin</li>
<li>Centre-Val de Loire</li>
<li>Gueldre</li>
<li>Languedoc-Roussillon</li>
<li>Occitanie (région administrative)</li>
<li>Région Centre</li>
<li>Île-de-France</li>
</region>
<settlement><li>Berlin</li>
<li>Montpellier</li>
<li>Nimègue</li>
<li>Paris</li>
<li>Tours</li>
</settlement>
</list>
<tree><country name="Allemagne"><region name="Berlin"><name sortKey="Shoichet, Sarah A" sort="Shoichet, Sarah A" uniqKey="Shoichet S" first="Sarah A." last="Shoichet">Sarah A. Shoichet</name>
</region>
<name sortKey="Hoeltzenbein, Maria" sort="Hoeltzenbein, Maria" uniqKey="Hoeltzenbein M" first="Maria" last="Hoeltzenbein">Maria Hoeltzenbein</name>
<name sortKey="Hoffmann, Kirsten" sort="Hoffmann, Kirsten" uniqKey="Hoffmann K" first="Kirsten" last="Hoffmann">Kirsten Hoffmann</name>
<name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M." last="Kalscheuer">Vera M. Kalscheuer</name>
<name sortKey="Menzel, Corinna" sort="Menzel, Corinna" uniqKey="Menzel C" first="Corinna" last="Menzel">Corinna Menzel</name>
<name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name>
<name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name>
<name sortKey="Rott, Hans Dieter" sort="Rott, Hans Dieter" uniqKey="Rott H" first="Hans-Dieter" last="Rott">Hans-Dieter Rott</name>
<name sortKey="Trautmann, Udo" sort="Trautmann, Udo" uniqKey="Trautmann U" first="Udo" last="Trautmann">Udo Trautmann</name>
</country>
<country name="France"><region name="Occitanie (région administrative)"><name sortKey="Echenne, Bernard" sort="Echenne, Bernard" uniqKey="Echenne B" first="Bernard" last="Echenne">Bernard Echenne</name>
</region>
<name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
</country>
<country name="Australie"><noRegion><name sortKey="Partington, Michael" sort="Partington, Michael" uniqKey="Partington M" first="Michael" last="Partington">Michael Partington</name>
</noRegion>
</country>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
</region>
</country>
<country name="Belgique"><noRegion><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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Mutations in the ZNF41 gene are associated with cognitive deficits: Identification of a new candidate for X-linked mental retardation

Mutations in the ZNF41 gene are associated with cognitive deficits: Identification of a new candidate for X-linked mental retardation

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