Novel JARID1C/SMCX mutations in patients with X‐linked mental retardation
Identifieur interne : 009934 ( Main/Exploration ); précédent : 009933; suivant : 009935Novel JARID1C/SMCX mutations in patients with X‐linked mental retardation
Auteurs : Andreas Tzschach [Allemagne] ; Steffen Lenzner [Allemagne] ; Bettina Moser [Allemagne] ; Richard Reinhardt [Allemagne] ; Jamel Chelly [France] ; Jean-Pierre Fryns [Belgique] ; Tjitske Kleefstra [Pays-Bas] ; Martine Raynaud [France] ; Gillian Turner [Australie] ; Hans-Hilger Ropers [Allemagne] ; Andreas Kuss [Allemagne] ; Lars Riff Jensen [Allemagne]Source :
- Human Mutation [ 1059-7794 ] ; 2006-04.
Descripteurs français
- Wicri :
- topic : Génétique.
English descriptors
- KwdEn :
- Abnormality, Aggressive behavior, Alopecia areata, Amino, Amino acids, Andreas, Centile, Epilepsy, European xlmr consortium, Family members, Genbank, Genbank accession number, Genet, Genetics, Hamel, Human genetics, Human jarid1 family, Impairment, Index patient, Jarid1c, Jarid1c gene, Jarid1c mutations, Male controls, Maternal uncle, Maxillary hypoplasia, Mental retardation, Missense, Missense mutation, Missense mutations, Molecular genetics, Mutation, Nonsense mutation, Novel jarid1c mutations, Novel mutations, Patient control, Planck institute, Retardation, Roper, Short stature, Speech impairment, Total number, Transcriptional regulation, Tzschach, Violent behavior, Xlmr, Xlmr families, Xlmr patients, Zinc finger domain.
- Teeft :
- Abnormality, Aggressive behavior, Alopecia areata, Amino, Amino acids, Andreas, Centile, Epilepsy, European xlmr consortium, Family members, Genbank, Genbank accession number, Genet, Genetics, Hamel, Human genetics, Human jarid1 family, Impairment, Index patient, Jarid1c, Jarid1c gene, Jarid1c mutations, Male controls, Maternal uncle, Maxillary hypoplasia, Mental retardation, Missense, Missense mutation, Missense mutations, Molecular genetics, Mutation, Nonsense mutation, Novel jarid1c mutations, Novel mutations, Patient control, Planck institute, Retardation, Roper, Short stature, Speech impairment, Total number, Transcriptional regulation, Tzschach, Violent behavior, Xlmr, Xlmr families, Xlmr patients, Zinc finger domain.
Abstract
X‐linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this gene [Jensen LR et al., Am. J. Hum. Genet. 76:227–236, 2005]. Here, we report five novel JARID1C mutations in five XLMR families. The changes comprise one nonsense mutation (p.Arg332X) and four missense mutations (p.Asp87Gly; p.Phe642Leu; p.Arg750Trp; p.Tyr751Cys) affecting evolutionarily conserved amino acids. The degree of mental retardation in the affected males ranged from mild to severe, and some patients suffered from additional disorders such as epilepsy, short stature, or behavioral problems. This study brings the total number of reported JARID1C mutations to twelve. In contrast to other XLMR genes in which mutations were found only in single or very few families, JARID1C appears to be one of the more frequently mutated genes in this disorder. © 2006 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/humu.9420
Affiliations:
- Allemagne, Australie, Belgique, France, Pays-Bas
- Berlin, Centre-Val de Loire, Gueldre, Région Centre, Île-de-France
- Berlin, Nimègue, Paris, Tours
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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">27</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="389">389</biblScope><biblScope unit="page" to="389">389</biblScope><biblScope unit="page-count">1</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-04">2006-04</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>Abnormality</term><term>Aggressive behavior</term><term>Alopecia areata</term><term>Amino</term><term>Amino acids</term><term>Andreas</term><term>Centile</term><term>Epilepsy</term><term>European xlmr consortium</term><term>Family members</term><term>Genbank</term><term>Genbank accession number</term><term>Genet</term><term>Genetics</term><term>Hamel</term><term>Human genetics</term><term>Human jarid1 family</term><term>Impairment</term><term>Index patient</term><term>Jarid1c</term><term>Jarid1c gene</term><term>Jarid1c mutations</term><term>Male controls</term><term>Maternal uncle</term><term>Maxillary hypoplasia</term><term>Mental retardation</term><term>Missense</term><term>Missense mutation</term><term>Missense mutations</term><term>Molecular genetics</term><term>Mutation</term><term>Nonsense mutation</term><term>Novel jarid1c mutations</term><term>Novel mutations</term><term>Patient control</term><term>Planck institute</term><term>Retardation</term><term>Roper</term><term>Short stature</term><term>Speech impairment</term><term>Total number</term><term>Transcriptional regulation</term><term>Tzschach</term><term>Violent behavior</term><term>Xlmr</term><term>Xlmr families</term><term>Xlmr patients</term><term>Zinc finger domain</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Abnormality</term><term>Aggressive behavior</term><term>Alopecia areata</term><term>Amino</term><term>Amino acids</term><term>Andreas</term><term>Centile</term><term>Epilepsy</term><term>European xlmr consortium</term><term>Family members</term><term>Genbank</term><term>Genbank accession number</term><term>Genet</term><term>Genetics</term><term>Hamel</term><term>Human genetics</term><term>Human jarid1 family</term><term>Impairment</term><term>Index patient</term><term>Jarid1c</term><term>Jarid1c gene</term><term>Jarid1c mutations</term><term>Male controls</term><term>Maternal uncle</term><term>Maxillary hypoplasia</term><term>Mental retardation</term><term>Missense</term><term>Missense mutation</term><term>Missense mutations</term><term>Molecular genetics</term><term>Mutation</term><term>Nonsense mutation</term><term>Novel jarid1c mutations</term><term>Novel mutations</term><term>Patient control</term><term>Planck institute</term><term>Retardation</term><term>Roper</term><term>Short stature</term><term>Speech impairment</term><term>Total number</term><term>Transcriptional regulation</term><term>Tzschach</term><term>Violent behavior</term><term>Xlmr</term><term>Xlmr families</term><term>Xlmr patients</term><term>Zinc finger domain</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">X‐linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this gene [Jensen LR et al., Am. J. Hum. Genet. 76:227–236, 2005]. Here, we report five novel JARID1C mutations in five XLMR families. The changes comprise one nonsense mutation (p.Arg332X) and four missense mutations (p.Asp87Gly; p.Phe642Leu; p.Arg750Trp; p.Tyr751Cys) affecting evolutionarily conserved amino acids. The degree of mental retardation in the affected males ranged from mild to severe, and some patients suffered from additional disorders such as epilepsy, short stature, or behavioral problems. This study brings the total number of reported JARID1C mutations to twelve. In contrast to other XLMR genes in which mutations were found only in single or very few families, JARID1C appears to be one of the more frequently mutated genes in this disorder. © 2006 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>Berlin</li><li>Centre-Val de Loire</li><li>Gueldre</li><li>Région Centre</li><li>Île-de-France</li></region><settlement><li>Berlin</li><li>Nimègue</li><li>Paris</li><li>Tours</li></settlement></list><tree><country name="Allemagne"><region name="Berlin"><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name></region><name sortKey="Jensen, Lars Riff" sort="Jensen, Lars Riff" uniqKey="Jensen L" first="Lars Riff" last="Jensen">Lars Riff Jensen</name><name sortKey="Kuss, Andreas" sort="Kuss, Andreas" uniqKey="Kuss A" first="Andreas" last="Kuss">Andreas Kuss</name><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</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><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name></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="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name></country><country name="Belgique"><noRegion><name sortKey="Fryns, Jean Ierre" sort="Fryns, Jean Ierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name></noRegion></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name></region></country><country name="Australie"><noRegion><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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