Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobu...
Gespeichert in:
| Veröffentlicht in: | Nature genetics 1995-02, Vol.9 (2), p.165-172 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 172 |
|---|---|
| container_issue | 2 |
| container_start_page | 165 |
| container_title | Nature genetics |
| container_volume | 9 |
| creator | Wilkie, Andrew O.M. Slaney, Sarah F. Oldridge, Michael Poole, Michael D. Ashworth, Geraldine J. Hockley, Anthony D. Hayward, Richard D. David, David J. Pulleyn, Louise J. Rutland, Paul Malcolm, Susan Winter, Robin M. Reardon, William |
| description | Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2. The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis. |
| doi_str_mv | 10.1038/ng0295-165 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_77222040</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>16711161</sourcerecordid><originalsourceid>FETCH-LOGICAL-c378t-b37d5b82dab3603803f2fbe4b63cd36275372dd048058dfb636e527a702123d73</originalsourceid><addsrcrecordid>eNqFkM1LwzAchoMoU6cX70IO4kGp5qNJuuMYbgoDQfQoJW3S2ZEmM2mR7a83o2UnwVM-3ifvjzwAXGH0gBHNHu0KkQlLMGdH4AyzlCdY4Ow47hHHSYooPwXnIawRwmmKshEYCYEnNE3PwOd0o30Lw9Yq7xoNvQ6daQOs4gkaV0pT77SCTdfKtnY2QFfB-WL-RqC0CtYBSmO0qUv4U7dfcOZdt3P2UHcBTippgr4c1jH4mD-9z56T5eviZTZdJiUVWZsUVChWZETJgvL4IUQrUhU6LTgtFeVEMCqIUijNEMtUFa-5ZkRIgQgmVAk6Brd978a7706HNm_qUGpjpNWuC7kQhBAURfwHYi4wxhxH8K4HS-9C8LrKN75upN_mGOV76XkvPb5gEb4eWrui0eqADpZjfjPkMkSjlZe2rMMBo3RCGNvX3PdYiIldaZ-vXedtFPfX0F_WD5ae</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>16711161</pqid></control><display><type>article</type><title>Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><source>Nature Journals Online</source><creator>Wilkie, Andrew O.M. ; Slaney, Sarah F. ; Oldridge, Michael ; Poole, Michael D. ; Ashworth, Geraldine J. ; Hockley, Anthony D. ; Hayward, Richard D. ; David, David J. ; Pulleyn, Louise J. ; Rutland, Paul ; Malcolm, Susan ; Winter, Robin M. ; Reardon, William</creator><creatorcontrib>Wilkie, Andrew O.M. ; Slaney, Sarah F. ; Oldridge, Michael ; Poole, Michael D. ; Ashworth, Geraldine J. ; Hockley, Anthony D. ; Hayward, Richard D. ; David, David J. ; Pulleyn, Louise J. ; Rutland, Paul ; Malcolm, Susan ; Winter, Robin M. ; Reardon, William</creatorcontrib><description>Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2. The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng0295-165</identifier><identifier>PMID: 7719344</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Acrocephalosyndactylia - genetics ; Agriculture ; Alleles ; Amino Acid Sequence ; Animal Genetics and Genomics ; Apert's syndrome ; Base Sequence ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Craniofacial Dysostosis - genetics ; craniosynostosis ; Crouzon's syndrome ; Diseases of the osteoarticular system ; DNA, Complementary ; Exons ; Female ; FGFR2 gene ; fibroblast growth factor receptors ; Gene Function ; Genetic Markers ; Genotype ; Human Genetics ; Humans ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; man ; Medical sciences ; Molecular Sequence Data ; Mutation ; Polymorphism, Single-Stranded Conformational ; Receptor Protein-Tyrosine Kinases - genetics ; Receptor, Fibroblast Growth Factor, Type 2 ; Receptors, Fibroblast Growth Factor - genetics ; Restriction Mapping ; Syndactyly</subject><ispartof>Nature genetics, 1995-02, Vol.9 (2), p.165-172</ispartof><rights>Springer Nature America, Inc. 1995</rights><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c378t-b37d5b82dab3603803f2fbe4b63cd36275372dd048058dfb636e527a702123d73</citedby><cites>FETCH-LOGICAL-c378t-b37d5b82dab3603803f2fbe4b63cd36275372dd048058dfb636e527a702123d73</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ng0295-165$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng0295-165$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3392555$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7719344$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wilkie, Andrew O.M.</creatorcontrib><creatorcontrib>Slaney, Sarah F.</creatorcontrib><creatorcontrib>Oldridge, Michael</creatorcontrib><creatorcontrib>Poole, Michael D.</creatorcontrib><creatorcontrib>Ashworth, Geraldine J.</creatorcontrib><creatorcontrib>Hockley, Anthony D.</creatorcontrib><creatorcontrib>Hayward, Richard D.</creatorcontrib><creatorcontrib>David, David J.</creatorcontrib><creatorcontrib>Pulleyn, Louise J.</creatorcontrib><creatorcontrib>Rutland, Paul</creatorcontrib><creatorcontrib>Malcolm, Susan</creatorcontrib><creatorcontrib>Winter, Robin M.</creatorcontrib><creatorcontrib>Reardon, William</creatorcontrib><title>Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2. The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis.</description><subject>Acrocephalosyndactylia - genetics</subject><subject>Agriculture</subject><subject>Alleles</subject><subject>Amino Acid Sequence</subject><subject>Animal Genetics and Genomics</subject><subject>Apert's syndrome</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Craniofacial Dysostosis - genetics</subject><subject>craniosynostosis</subject><subject>Crouzon's syndrome</subject><subject>Diseases of the osteoarticular system</subject><subject>DNA, Complementary</subject><subject>Exons</subject><subject>Female</subject><subject>FGFR2 gene</subject><subject>fibroblast growth factor receptors</subject><subject>Gene Function</subject><subject>Genetic Markers</subject><subject>Genotype</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>man</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Receptor Protein-Tyrosine Kinases - genetics</subject><subject>Receptor, Fibroblast Growth Factor, Type 2</subject><subject>Receptors, Fibroblast Growth Factor - genetics</subject><subject>Restriction Mapping</subject><subject>Syndactyly</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkM1LwzAchoMoU6cX70IO4kGp5qNJuuMYbgoDQfQoJW3S2ZEmM2mR7a83o2UnwVM-3ifvjzwAXGH0gBHNHu0KkQlLMGdH4AyzlCdY4Ow47hHHSYooPwXnIawRwmmKshEYCYEnNE3PwOd0o30Lw9Yq7xoNvQ6daQOs4gkaV0pT77SCTdfKtnY2QFfB-WL-RqC0CtYBSmO0qUv4U7dfcOZdt3P2UHcBTippgr4c1jH4mD-9z56T5eviZTZdJiUVWZsUVChWZETJgvL4IUQrUhU6LTgtFeVEMCqIUijNEMtUFa-5ZkRIgQgmVAk6Brd978a7706HNm_qUGpjpNWuC7kQhBAURfwHYi4wxhxH8K4HS-9C8LrKN75upN_mGOV76XkvPb5gEb4eWrui0eqADpZjfjPkMkSjlZe2rMMBo3RCGNvX3PdYiIldaZ-vXedtFPfX0F_WD5ae</recordid><startdate>19950201</startdate><enddate>19950201</enddate><creator>Wilkie, Andrew O.M.</creator><creator>Slaney, Sarah F.</creator><creator>Oldridge, Michael</creator><creator>Poole, Michael D.</creator><creator>Ashworth, Geraldine J.</creator><creator>Hockley, Anthony D.</creator><creator>Hayward, Richard D.</creator><creator>David, David J.</creator><creator>Pulleyn, Louise J.</creator><creator>Rutland, Paul</creator><creator>Malcolm, Susan</creator><creator>Winter, Robin M.</creator><creator>Reardon, William</creator><general>Nature Publishing Group US</general><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>AAYXX</scope><scope>CITATION</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>19950201</creationdate><title>Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome</title><author>Wilkie, Andrew O.M. ; Slaney, Sarah F. ; Oldridge, Michael ; Poole, Michael D. ; Ashworth, Geraldine J. ; Hockley, Anthony D. ; Hayward, Richard D. ; David, David J. ; Pulleyn, Louise J. ; Rutland, Paul ; Malcolm, Susan ; Winter, Robin M. ; Reardon, William</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c378t-b37d5b82dab3603803f2fbe4b63cd36275372dd048058dfb636e527a702123d73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Acrocephalosyndactylia - genetics</topic><topic>Agriculture</topic><topic>Alleles</topic><topic>Amino Acid Sequence</topic><topic>Animal Genetics and Genomics</topic><topic>Apert's syndrome</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Craniofacial Dysostosis - genetics</topic><topic>craniosynostosis</topic><topic>Crouzon's syndrome</topic><topic>Diseases of the osteoarticular system</topic><topic>DNA, Complementary</topic><topic>Exons</topic><topic>Female</topic><topic>FGFR2 gene</topic><topic>fibroblast growth factor receptors</topic><topic>Gene Function</topic><topic>Genetic Markers</topic><topic>Genotype</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>man</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Receptor Protein-Tyrosine Kinases - genetics</topic><topic>Receptor, Fibroblast Growth Factor, Type 2</topic><topic>Receptors, Fibroblast Growth Factor - genetics</topic><topic>Restriction Mapping</topic><topic>Syndactyly</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wilkie, Andrew O.M.</creatorcontrib><creatorcontrib>Slaney, Sarah F.</creatorcontrib><creatorcontrib>Oldridge, Michael</creatorcontrib><creatorcontrib>Poole, Michael D.</creatorcontrib><creatorcontrib>Ashworth, Geraldine J.</creatorcontrib><creatorcontrib>Hockley, Anthony D.</creatorcontrib><creatorcontrib>Hayward, Richard D.</creatorcontrib><creatorcontrib>David, David J.</creatorcontrib><creatorcontrib>Pulleyn, Louise J.</creatorcontrib><creatorcontrib>Rutland, Paul</creatorcontrib><creatorcontrib>Malcolm, Susan</creatorcontrib><creatorcontrib>Winter, Robin M.</creatorcontrib><creatorcontrib>Reardon, William</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>CrossRef</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wilkie, Andrew O.M.</au><au>Slaney, Sarah F.</au><au>Oldridge, Michael</au><au>Poole, Michael D.</au><au>Ashworth, Geraldine J.</au><au>Hockley, Anthony D.</au><au>Hayward, Richard D.</au><au>David, David J.</au><au>Pulleyn, Louise J.</au><au>Rutland, Paul</au><au>Malcolm, Susan</au><au>Winter, Robin M.</au><au>Reardon, William</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>1995-02-01</date><risdate>1995</risdate><volume>9</volume><issue>2</issue><spage>165</spage><epage>172</epage><pages>165-172</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2. The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>7719344</pmid><doi>10.1038/ng0295-165</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1061-4036 |
| ispartof | Nature genetics, 1995-02, Vol.9 (2), p.165-172 |
| issn | 1061-4036 1546-1718 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_77222040 |
| source | MEDLINE; Springer Nature - Complete Springer Journals; Nature Journals Online |
| subjects | Acrocephalosyndactylia - genetics Agriculture Alleles Amino Acid Sequence Animal Genetics and Genomics Apert's syndrome Base Sequence Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Craniofacial Dysostosis - genetics craniosynostosis Crouzon's syndrome Diseases of the osteoarticular system DNA, Complementary Exons Female FGFR2 gene fibroblast growth factor receptors Gene Function Genetic Markers Genotype Human Genetics Humans Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations man Medical sciences Molecular Sequence Data Mutation Polymorphism, Single-Stranded Conformational Receptor Protein-Tyrosine Kinases - genetics Receptor, Fibroblast Growth Factor, Type 2 Receptors, Fibroblast Growth Factor - genetics Restriction Mapping Syndactyly |
| title | Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-01T20%3A24%3A46IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Apert%20syndrome%20results%20from%20localized%20mutations%20of%20FGFR2%20and%20is%20allelic%20with%20Crouzon%20syndrome&rft.jtitle=Nature%20genetics&rft.au=Wilkie,%20Andrew%20O.M.&rft.date=1995-02-01&rft.volume=9&rft.issue=2&rft.spage=165&rft.epage=172&rft.pages=165-172&rft.issn=1061-4036&rft.eissn=1546-1718&rft.coden=NGENEC&rft_id=info:doi/10.1038/ng0295-165&rft_dat=%3Cproquest_cross%3E16711161%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=16711161&rft_id=info:pmid/7719344&rfr_iscdi=true |