Mutations of the TWIST gene in the Saethre-Chotzen syndrome
Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura. ACS III has been mapped to chromosome 7p21-22. Of interest, TWIS...
Gespeichert in:
| Veröffentlicht in: | Nature genetics 1997, Vol.15 (1), p.42-46 |
|---|---|
| Hauptverfasser: | , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 46 |
|---|---|
| container_issue | 1 |
| container_start_page | 42 |
| container_title | Nature genetics |
| container_volume | 15 |
| creator | EL GHOUZZI, V LE MERRER, M PERRIN-SCHMITT, F LAJEUNIE, E BENIT, P RENIER, D BOURGEOIS, P BOLCATO-BELLEMIN, A.-L MUNNICH, A BONAVENTURE, J |
| description | Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura. ACS III has been mapped to chromosome 7p21-22. Of interest, TWIST, the human counterpart of the murine Twist gene, has been localized on chromosome 7p21 as well. The Twist gene product is a transcription factor containing a basic helix-loop-helix (b-HLH) domain, required in head mesenchyme for cranial neural tube morphogenesis in mice. The co-localisation of ACS III and TWIST prompted us to screen ACS III patients for TWIST gene mutations especially as mice heterozygous for Twist null mutations displayed skull defects and duplication of hind leg digits. Here, we report 21-bp insertions and nonsense mutations of the TWIST gene (S127X, E130X) in seven ACS III probands and describe impairment of head mesenchyme induction by TWIST as a novel pathophysiological mechanism in human craniosynostoses. |
| doi_str_mv | 10.1038/ng0197-42 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_15843223</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>15843223</sourcerecordid><originalsourceid>FETCH-LOGICAL-p266t-7cf778b4cf198f61c975f65a4461b51e0a0f101bd18fb606a7523dcdd2fd33ef3</originalsourceid><addsrcrecordid>eNo9j0tLw0AcxBdRaq0e_ABCDuItuv99B09SfBQqHlrxGDb7aCPJpmY3h_rpLRo8zTDzY2AQugR8C5iqu7DBUMickSM0Bc5EDhLU8cFjATnDVJyisxg_MQbGsJqgiSqUAiGn6P51SDrVXYhZ57O0ddn6Y7FaZxsXXFaH32SlXdr2Lp9vu_TtQhb3wfZd687RiddNdBejztD70-N6_pIv354X84dlviNCpFwaL6WqmPFQKC_AFJJ7wTVjAioODmvsAUNlQflKYKElJ9Qaa4m3lDpPZ-jmb3fXd1-Di6ls62hc0-jguiGWwBWjhNADeDWCQ9U6W-76utX9vhzfHvrrsdfR6Mb3Opg6_mOEE8YKRn8A6EhhHw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>15843223</pqid></control><display><type>article</type><title>Mutations of the TWIST gene in the Saethre-Chotzen syndrome</title><source>MEDLINE</source><source>Nature</source><source>Alma/SFX Local Collection</source><creator>EL GHOUZZI, V ; LE MERRER, M ; PERRIN-SCHMITT, F ; LAJEUNIE, E ; BENIT, P ; RENIER, D ; BOURGEOIS, P ; BOLCATO-BELLEMIN, A.-L ; MUNNICH, A ; BONAVENTURE, J</creator><creatorcontrib>EL GHOUZZI, V ; LE MERRER, M ; PERRIN-SCHMITT, F ; LAJEUNIE, E ; BENIT, P ; RENIER, D ; BOURGEOIS, P ; BOLCATO-BELLEMIN, A.-L ; MUNNICH, A ; BONAVENTURE, J</creatorcontrib><description>Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura. ACS III has been mapped to chromosome 7p21-22. Of interest, TWIST, the human counterpart of the murine Twist gene, has been localized on chromosome 7p21 as well. The Twist gene product is a transcription factor containing a basic helix-loop-helix (b-HLH) domain, required in head mesenchyme for cranial neural tube morphogenesis in mice. The co-localisation of ACS III and TWIST prompted us to screen ACS III patients for TWIST gene mutations especially as mice heterozygous for Twist null mutations displayed skull defects and duplication of hind leg digits. Here, we report 21-bp insertions and nonsense mutations of the TWIST gene (S127X, E130X) in seven ACS III probands and describe impairment of head mesenchyme induction by TWIST as a novel pathophysiological mechanism in human craniosynostoses.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng0197-42</identifier><identifier>PMID: 8988167</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>London: Nature Publishing Group</publisher><subject>Acrocephalosyndactylia - genetics ; Amino Acid Sequence ; Animals ; Base Sequence ; Biological and medical sciences ; Chromosomes, Human, Pair 7 ; Diseases of the osteoarticular system ; DNA ; Female ; Helix-Loop-Helix Motifs ; Humans ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences ; Mice ; Molecular Sequence Data ; Mutagenesis, Insertional ; Mutation ; Nuclear Proteins - genetics ; Pedigree ; Phenotype ; Polymorphism, Single-Stranded Conformational ; Transcription Factors - genetics ; Twist-Related Protein 1</subject><ispartof>Nature genetics, 1997, Vol.15 (1), p.42-46</ispartof><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,782,786,4028,27932,27933,27934</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2524494$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8988167$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>EL GHOUZZI, V</creatorcontrib><creatorcontrib>LE MERRER, M</creatorcontrib><creatorcontrib>PERRIN-SCHMITT, F</creatorcontrib><creatorcontrib>LAJEUNIE, E</creatorcontrib><creatorcontrib>BENIT, P</creatorcontrib><creatorcontrib>RENIER, D</creatorcontrib><creatorcontrib>BOURGEOIS, P</creatorcontrib><creatorcontrib>BOLCATO-BELLEMIN, A.-L</creatorcontrib><creatorcontrib>MUNNICH, A</creatorcontrib><creatorcontrib>BONAVENTURE, J</creatorcontrib><title>Mutations of the TWIST gene in the Saethre-Chotzen syndrome</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><description>Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura. ACS III has been mapped to chromosome 7p21-22. Of interest, TWIST, the human counterpart of the murine Twist gene, has been localized on chromosome 7p21 as well. The Twist gene product is a transcription factor containing a basic helix-loop-helix (b-HLH) domain, required in head mesenchyme for cranial neural tube morphogenesis in mice. The co-localisation of ACS III and TWIST prompted us to screen ACS III patients for TWIST gene mutations especially as mice heterozygous for Twist null mutations displayed skull defects and duplication of hind leg digits. Here, we report 21-bp insertions and nonsense mutations of the TWIST gene (S127X, E130X) in seven ACS III probands and describe impairment of head mesenchyme induction by TWIST as a novel pathophysiological mechanism in human craniosynostoses.</description><subject>Acrocephalosyndactylia - genetics</subject><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Chromosomes, Human, Pair 7</subject><subject>Diseases of the osteoarticular system</subject><subject>DNA</subject><subject>Female</subject><subject>Helix-Loop-Helix Motifs</subject><subject>Humans</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>Mice</subject><subject>Molecular Sequence Data</subject><subject>Mutagenesis, Insertional</subject><subject>Mutation</subject><subject>Nuclear Proteins - genetics</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Transcription Factors - genetics</subject><subject>Twist-Related Protein 1</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9j0tLw0AcxBdRaq0e_ABCDuItuv99B09SfBQqHlrxGDb7aCPJpmY3h_rpLRo8zTDzY2AQugR8C5iqu7DBUMickSM0Bc5EDhLU8cFjATnDVJyisxg_MQbGsJqgiSqUAiGn6P51SDrVXYhZ57O0ddn6Y7FaZxsXXFaH32SlXdr2Lp9vu_TtQhb3wfZd687RiddNdBejztD70-N6_pIv354X84dlviNCpFwaL6WqmPFQKC_AFJJ7wTVjAioODmvsAUNlQflKYKElJ9Qaa4m3lDpPZ-jmb3fXd1-Di6ls62hc0-jguiGWwBWjhNADeDWCQ9U6W-76utX9vhzfHvrrsdfR6Mb3Opg6_mOEE8YKRn8A6EhhHw</recordid><startdate>1997</startdate><enddate>1997</enddate><creator>EL GHOUZZI, V</creator><creator>LE MERRER, M</creator><creator>PERRIN-SCHMITT, F</creator><creator>LAJEUNIE, E</creator><creator>BENIT, P</creator><creator>RENIER, D</creator><creator>BOURGEOIS, P</creator><creator>BOLCATO-BELLEMIN, A.-L</creator><creator>MUNNICH, A</creator><creator>BONAVENTURE, J</creator><general>Nature Publishing Group</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>1997</creationdate><title>Mutations of the TWIST gene in the Saethre-Chotzen syndrome</title><author>EL GHOUZZI, V ; LE MERRER, M ; PERRIN-SCHMITT, F ; LAJEUNIE, E ; BENIT, P ; RENIER, D ; BOURGEOIS, P ; BOLCATO-BELLEMIN, A.-L ; MUNNICH, A ; BONAVENTURE, J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p266t-7cf778b4cf198f61c975f65a4461b51e0a0f101bd18fb606a7523dcdd2fd33ef3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Acrocephalosyndactylia - genetics</topic><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Chromosomes, Human, Pair 7</topic><topic>Diseases of the osteoarticular system</topic><topic>DNA</topic><topic>Female</topic><topic>Helix-Loop-Helix Motifs</topic><topic>Humans</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical sciences</topic><topic>Mice</topic><topic>Molecular Sequence Data</topic><topic>Mutagenesis, Insertional</topic><topic>Mutation</topic><topic>Nuclear Proteins - genetics</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Transcription Factors - genetics</topic><topic>Twist-Related Protein 1</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>EL GHOUZZI, V</creatorcontrib><creatorcontrib>LE MERRER, M</creatorcontrib><creatorcontrib>PERRIN-SCHMITT, F</creatorcontrib><creatorcontrib>LAJEUNIE, E</creatorcontrib><creatorcontrib>BENIT, P</creatorcontrib><creatorcontrib>RENIER, D</creatorcontrib><creatorcontrib>BOURGEOIS, P</creatorcontrib><creatorcontrib>BOLCATO-BELLEMIN, A.-L</creatorcontrib><creatorcontrib>MUNNICH, A</creatorcontrib><creatorcontrib>BONAVENTURE, J</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>EL GHOUZZI, V</au><au>LE MERRER, M</au><au>PERRIN-SCHMITT, F</au><au>LAJEUNIE, E</au><au>BENIT, P</au><au>RENIER, D</au><au>BOURGEOIS, P</au><au>BOLCATO-BELLEMIN, A.-L</au><au>MUNNICH, A</au><au>BONAVENTURE, J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations of the TWIST gene in the Saethre-Chotzen syndrome</atitle><jtitle>Nature genetics</jtitle><addtitle>Nat Genet</addtitle><date>1997</date><risdate>1997</risdate><volume>15</volume><issue>1</issue><spage>42</spage><epage>46</epage><pages>42-46</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura. ACS III has been mapped to chromosome 7p21-22. Of interest, TWIST, the human counterpart of the murine Twist gene, has been localized on chromosome 7p21 as well. The Twist gene product is a transcription factor containing a basic helix-loop-helix (b-HLH) domain, required in head mesenchyme for cranial neural tube morphogenesis in mice. The co-localisation of ACS III and TWIST prompted us to screen ACS III patients for TWIST gene mutations especially as mice heterozygous for Twist null mutations displayed skull defects and duplication of hind leg digits. Here, we report 21-bp insertions and nonsense mutations of the TWIST gene (S127X, E130X) in seven ACS III probands and describe impairment of head mesenchyme induction by TWIST as a novel pathophysiological mechanism in human craniosynostoses.</abstract><cop>London</cop><pub>Nature Publishing Group</pub><pmid>8988167</pmid><doi>10.1038/ng0197-42</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1061-4036 |
| ispartof | Nature genetics, 1997, Vol.15 (1), p.42-46 |
| issn | 1061-4036 1546-1718 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_15843223 |
| source | MEDLINE; Nature; Alma/SFX Local Collection |
| subjects | Acrocephalosyndactylia - genetics Amino Acid Sequence Animals Base Sequence Biological and medical sciences Chromosomes, Human, Pair 7 Diseases of the osteoarticular system DNA Female Helix-Loop-Helix Motifs Humans Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Mice Molecular Sequence Data Mutagenesis, Insertional Mutation Nuclear Proteins - genetics Pedigree Phenotype Polymorphism, Single-Stranded Conformational Transcription Factors - genetics Twist-Related Protein 1 |
| title | Mutations of the TWIST gene in the Saethre-Chotzen syndrome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-03T09%3A35%3A10IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutations%20of%20the%20TWIST%20gene%20in%20the%20Saethre-Chotzen%20syndrome&rft.jtitle=Nature%20genetics&rft.au=EL%20GHOUZZI,%20V&rft.date=1997&rft.volume=15&rft.issue=1&rft.spage=42&rft.epage=46&rft.pages=42-46&rft.issn=1061-4036&rft.eissn=1546-1718&rft.coden=NGENEC&rft_id=info:doi/10.1038/ng0197-42&rft_dat=%3Cproquest_pubme%3E15843223%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=15843223&rft_id=info:pmid/8988167&rfr_iscdi=true |