Mutation detection in FGFR2 craniosynostosis syndromes
Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and III...
Gespeichert in:
| Veröffentlicht in: | Human genetics 1997-02, Vol.99 (2), p.251-255 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 255 |
|---|---|
| container_issue | 2 |
| container_start_page | 251 |
| container_title | Human genetics |
| container_volume | 99 |
| creator | HOLLWAY, G. E SUTHERS, G. K HAAN, E. A THOMPSON, E DAVID, D. J GECZ, J MULLEY, J. C |
| description | Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight of the nine mutations found have been reported, but one patient with Pfeiffer syndrome was found to have a novel G-to-C splice site mutation at-1 relative to the start of exon IIIc. Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome. This degree of phenotypic variability shows that the clinical features associated with a specific mutation do not necessarily breed true. |
| doi_str_mv | 10.1007/s004390050348 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_78854006</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>78854006</sourcerecordid><originalsourceid>FETCH-LOGICAL-c317t-5f4fecad9167ee06069e5e3d102bb6696f5be5b79cf6a3fd95994abdb1a54c083</originalsourceid><addsrcrecordid>eNpVkM9Lw0AQhRdRaq0ePQo5iLfobPZX9ijFVqEiiJ7DZjMLkSRbM-mh_73RhoKnecz7eIePsWsO9xzAPBCAFBZAgZD5CZtzKbKUZyBO2Xx8QaoNN-fsgugLgCubqRmbWZC5FTBn-nU3uKGOXVLhgP4v1V2yWq_es8T3rqsj7btIQ6SakjFWfWyRLtlZcA3h1XQX7HP19LF8Tjdv65fl4yb1gpshVUEG9K6yXBtE0KAtKhQVh6wstbY6qBJVaawP2olQWWWtdGVVcqekh1ws2N1hd9vH7x3SULQ1eWwa12HcUWHyXEkAPYLpAfR9JOoxFNu-bl2_LzgUv56Kf55G_mYa3pUtVkd6EjP2t1PvyLsmjCZ8TUcsU1JIo8QPFCJvKg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>78854006</pqid></control><display><type>article</type><title>Mutation detection in FGFR2 craniosynostosis syndromes</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>HOLLWAY, G. E ; SUTHERS, G. K ; HAAN, E. A ; THOMPSON, E ; DAVID, D. J ; GECZ, J ; MULLEY, J. C</creator><creatorcontrib>HOLLWAY, G. E ; SUTHERS, G. K ; HAAN, E. A ; THOMPSON, E ; DAVID, D. J ; GECZ, J ; MULLEY, J. C</creatorcontrib><description>Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight of the nine mutations found have been reported, but one patient with Pfeiffer syndrome was found to have a novel G-to-C splice site mutation at-1 relative to the start of exon IIIc. Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome. This degree of phenotypic variability shows that the clinical features associated with a specific mutation do not necessarily breed true.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s004390050348</identifier><identifier>PMID: 9048930</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Adult ; Biological and medical sciences ; Craniosynostoses - enzymology ; Craniosynostoses - genetics ; Diseases of the osteoarticular system ; Female ; Humans ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences ; Mutation ; Receptor Protein-Tyrosine Kinases - genetics ; Receptor, Fibroblast Growth Factor, Type 2 ; Receptors, Fibroblast Growth Factor - genetics ; Syndrome</subject><ispartof>Human genetics, 1997-02, Vol.99 (2), p.251-255</ispartof><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c317t-5f4fecad9167ee06069e5e3d102bb6696f5be5b79cf6a3fd95994abdb1a54c083</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2543475$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9048930$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>HOLLWAY, G. E</creatorcontrib><creatorcontrib>SUTHERS, G. K</creatorcontrib><creatorcontrib>HAAN, E. A</creatorcontrib><creatorcontrib>THOMPSON, E</creatorcontrib><creatorcontrib>DAVID, D. J</creatorcontrib><creatorcontrib>GECZ, J</creatorcontrib><creatorcontrib>MULLEY, J. C</creatorcontrib><title>Mutation detection in FGFR2 craniosynostosis syndromes</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight of the nine mutations found have been reported, but one patient with Pfeiffer syndrome was found to have a novel G-to-C splice site mutation at-1 relative to the start of exon IIIc. Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome. This degree of phenotypic variability shows that the clinical features associated with a specific mutation do not necessarily breed true.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Craniosynostoses - enzymology</subject><subject>Craniosynostoses - genetics</subject><subject>Diseases of the osteoarticular system</subject><subject>Female</subject><subject>Humans</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Receptor Protein-Tyrosine Kinases - genetics</subject><subject>Receptor, Fibroblast Growth Factor, Type 2</subject><subject>Receptors, Fibroblast Growth Factor - genetics</subject><subject>Syndrome</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkM9Lw0AQhRdRaq0ePQo5iLfobPZX9ijFVqEiiJ7DZjMLkSRbM-mh_73RhoKnecz7eIePsWsO9xzAPBCAFBZAgZD5CZtzKbKUZyBO2Xx8QaoNN-fsgugLgCubqRmbWZC5FTBn-nU3uKGOXVLhgP4v1V2yWq_es8T3rqsj7btIQ6SakjFWfWyRLtlZcA3h1XQX7HP19LF8Tjdv65fl4yb1gpshVUEG9K6yXBtE0KAtKhQVh6wstbY6qBJVaawP2olQWWWtdGVVcqekh1ws2N1hd9vH7x3SULQ1eWwa12HcUWHyXEkAPYLpAfR9JOoxFNu-bl2_LzgUv56Kf55G_mYa3pUtVkd6EjP2t1PvyLsmjCZ8TUcsU1JIo8QPFCJvKg</recordid><startdate>19970201</startdate><enddate>19970201</enddate><creator>HOLLWAY, G. E</creator><creator>SUTHERS, G. K</creator><creator>HAAN, E. A</creator><creator>THOMPSON, E</creator><creator>DAVID, D. J</creator><creator>GECZ, J</creator><creator>MULLEY, J. C</creator><general>Springer</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>7X8</scope></search><sort><creationdate>19970201</creationdate><title>Mutation detection in FGFR2 craniosynostosis syndromes</title><author>HOLLWAY, G. E ; SUTHERS, G. K ; HAAN, E. A ; THOMPSON, E ; DAVID, D. J ; GECZ, J ; MULLEY, J. C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c317t-5f4fecad9167ee06069e5e3d102bb6696f5be5b79cf6a3fd95994abdb1a54c083</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Craniosynostoses - enzymology</topic><topic>Craniosynostoses - genetics</topic><topic>Diseases of the osteoarticular system</topic><topic>Female</topic><topic>Humans</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Receptor Protein-Tyrosine Kinases - genetics</topic><topic>Receptor, Fibroblast Growth Factor, Type 2</topic><topic>Receptors, Fibroblast Growth Factor - genetics</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>HOLLWAY, G. E</creatorcontrib><creatorcontrib>SUTHERS, G. K</creatorcontrib><creatorcontrib>HAAN, E. A</creatorcontrib><creatorcontrib>THOMPSON, E</creatorcontrib><creatorcontrib>DAVID, D. J</creatorcontrib><creatorcontrib>GECZ, J</creatorcontrib><creatorcontrib>MULLEY, J. C</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>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>HOLLWAY, G. E</au><au>SUTHERS, G. K</au><au>HAAN, E. A</au><au>THOMPSON, E</au><au>DAVID, D. J</au><au>GECZ, J</au><au>MULLEY, J. C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation detection in FGFR2 craniosynostosis syndromes</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1997-02-01</date><risdate>1997</risdate><volume>99</volume><issue>2</issue><spage>251</spage><epage>255</epage><pages>251-255</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight of the nine mutations found have been reported, but one patient with Pfeiffer syndrome was found to have a novel G-to-C splice site mutation at-1 relative to the start of exon IIIc. Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome. This degree of phenotypic variability shows that the clinical features associated with a specific mutation do not necessarily breed true.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>9048930</pmid><doi>10.1007/s004390050348</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1997-02, Vol.99 (2), p.251-255 |
| issn | 0340-6717 1432-1203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_78854006 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Adult Biological and medical sciences Craniosynostoses - enzymology Craniosynostoses - genetics Diseases of the osteoarticular system Female Humans Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Mutation Receptor Protein-Tyrosine Kinases - genetics Receptor, Fibroblast Growth Factor, Type 2 Receptors, Fibroblast Growth Factor - genetics Syndrome |
| title | Mutation detection in FGFR2 craniosynostosis syndromes |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-08T22%3A46%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=Mutation%20detection%20in%20FGFR2%20craniosynostosis%20syndromes&rft.jtitle=Human%20genetics&rft.au=HOLLWAY,%20G.%20E&rft.date=1997-02-01&rft.volume=99&rft.issue=2&rft.spage=251&rft.epage=255&rft.pages=251-255&rft.issn=0340-6717&rft.eissn=1432-1203&rft.coden=HUGEDQ&rft_id=info:doi/10.1007/s004390050348&rft_dat=%3Cproquest_cross%3E78854006%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=78854006&rft_id=info:pmid/9048930&rfr_iscdi=true |