A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma
We present the clinical and ophthalmological findings, genetic analysis, and therapy of two siblings with NF1 and bilateral OPG. In genetic analysis, a heteroduplex profile was detected in exon 4b of the NF1 gene for the affected patients and mother. Sequencing of the DNA samples identified a C >...
Gespeichert in:
| Veröffentlicht in: | Pediatric Blood & Cancer 2008-03, Vol.50 (3), p.713-715 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 715 |
|---|---|
| container_issue | 3 |
| container_start_page | 713 |
| container_title | Pediatric Blood & Cancer |
| container_volume | 50 |
| creator | Kebudi, Rejin Tuncer, Samuray Upadhyaya, Meena Peksayar, Gonul Spurlock, Gill Yazici, Hulya |
| description | We present the clinical and ophthalmological findings, genetic analysis, and therapy of two siblings with NF1 and bilateral OPG. In genetic analysis, a heteroduplex profile was detected in exon 4b of the NF1 gene for the affected patients and mother. Sequencing of the DNA samples identified a C > T nucleotide change in exon 4b (c484CAG > TAG). This nonsense mutation resulted in a change of glutamine to a stop codon (Q162X) and is a novel NF1 gene alteration. Pediatr Blood Cancer 2008;50:713–715. © 2007 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/pbc.21234 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_20629087</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>20629087</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3924-ed3da79918950e182efbb67c0be9f01e90481847613b0e0f6920fc3cf06fd65f3</originalsourceid><addsrcrecordid>eNp1kE1v1DAQQC0EoqVw4A8gn5A4pB3ny_GxrOgXVYuqAhIXy07GuwYnTm2H7f77hu5STpxmRnrzDo-QtwwOGUB-NOr2MGd5UT4j-6wqq6wCxp8_7SD2yKsYf85oDVXzkuwxXrGSF2yf3B3Twf9GR_spqWT9QO1A0wrp1QmjSxzw8V57Gq12dlhGurZpRQecgjdWB9-r5KONNG1GpIyqoaPaOpUwKEf9mGxLR5VWa7WhS2dn_DV5YZSL-GY3D8jXk0-3i7Ps8vr0fHF8mbWFyMsMu6JTXAjWiAqQNTkarWvegkZhgKGAsmFNyWtWaEAwtcjBtEVroDZdXZnigLzfesfg7yaMSfY2tuicGtBPUeZQ5wIaPoMftmAbfIwBjRyD7VXYSAbyT18595WPfWf23U466R67f-Qu6AwcbYG1dbj5v0l--bj4q8y2HzYmvH_6UOGXrHnBK_n96lRe3MKPm_LzjfxWPAAZ7ZQb</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>20629087</pqid></control><display><type>article</type><title>A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Kebudi, Rejin ; Tuncer, Samuray ; Upadhyaya, Meena ; Peksayar, Gonul ; Spurlock, Gill ; Yazici, Hulya</creator><creatorcontrib>Kebudi, Rejin ; Tuncer, Samuray ; Upadhyaya, Meena ; Peksayar, Gonul ; Spurlock, Gill ; Yazici, Hulya</creatorcontrib><description>We present the clinical and ophthalmological findings, genetic analysis, and therapy of two siblings with NF1 and bilateral OPG. In genetic analysis, a heteroduplex profile was detected in exon 4b of the NF1 gene for the affected patients and mother. Sequencing of the DNA samples identified a C > T nucleotide change in exon 4b (c484CAG > TAG). This nonsense mutation resulted in a change of glutamine to a stop codon (Q162X) and is a novel NF1 gene alteration. Pediatr Blood Cancer 2008;50:713–715. © 2007 Wiley‐Liss, Inc.</description><identifier>ISSN: 1545-5009</identifier><identifier>EISSN: 1545-5017</identifier><identifier>EISSN: 1096-911X</identifier><identifier>DOI: 10.1002/pbc.21234</identifier><identifier>PMID: 17514731</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Antineoplastic Combined Chemotherapy Protocols - therapeutic use ; Base Sequence ; Carboplatin - administration & dosage ; Carboplatin - adverse effects ; Child, Preschool ; Codon, Nonsense ; Exons - genetics ; Female ; gene mutation ; Genes, Neurofibromatosis 1 ; Germ-Line Mutation ; Heteroduplex Analysis ; Humans ; Infant ; Molecular Sequence Data ; Neoplasms, Multiple Primary - diagnosis ; Neoplasms, Multiple Primary - drug therapy ; Neoplasms, Multiple Primary - genetics ; Neurofibromatosis 1 - genetics ; neurofibromatosis type 1 ; Optic glioma ; Optic Nerve Glioma - diagnosis ; Optic Nerve Glioma - drug therapy ; Optic Nerve Glioma - genetics ; Point Mutation ; Siblings ; Vincristine - administration & dosage</subject><ispartof>Pediatric Blood & Cancer, 2008-03, Vol.50 (3), p.713-715</ispartof><rights>Copyright © 2007 Wiley‐Liss, Inc.</rights><rights>(c) 2007 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3924-ed3da79918950e182efbb67c0be9f01e90481847613b0e0f6920fc3cf06fd65f3</citedby><cites>FETCH-LOGICAL-c3924-ed3da79918950e182efbb67c0be9f01e90481847613b0e0f6920fc3cf06fd65f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpbc.21234$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpbc.21234$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,777,781,1412,27905,27906,45555,45556</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17514731$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kebudi, Rejin</creatorcontrib><creatorcontrib>Tuncer, Samuray</creatorcontrib><creatorcontrib>Upadhyaya, Meena</creatorcontrib><creatorcontrib>Peksayar, Gonul</creatorcontrib><creatorcontrib>Spurlock, Gill</creatorcontrib><creatorcontrib>Yazici, Hulya</creatorcontrib><title>A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma</title><title>Pediatric Blood & Cancer</title><addtitle>Pediatr. Blood Cancer</addtitle><description>We present the clinical and ophthalmological findings, genetic analysis, and therapy of two siblings with NF1 and bilateral OPG. In genetic analysis, a heteroduplex profile was detected in exon 4b of the NF1 gene for the affected patients and mother. Sequencing of the DNA samples identified a C > T nucleotide change in exon 4b (c484CAG > TAG). This nonsense mutation resulted in a change of glutamine to a stop codon (Q162X) and is a novel NF1 gene alteration. Pediatr Blood Cancer 2008;50:713–715. © 2007 Wiley‐Liss, Inc.</description><subject>Adult</subject><subject>Antineoplastic Combined Chemotherapy Protocols - therapeutic use</subject><subject>Base Sequence</subject><subject>Carboplatin - administration & dosage</subject><subject>Carboplatin - adverse effects</subject><subject>Child, Preschool</subject><subject>Codon, Nonsense</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>gene mutation</subject><subject>Genes, Neurofibromatosis 1</subject><subject>Germ-Line Mutation</subject><subject>Heteroduplex Analysis</subject><subject>Humans</subject><subject>Infant</subject><subject>Molecular Sequence Data</subject><subject>Neoplasms, Multiple Primary - diagnosis</subject><subject>Neoplasms, Multiple Primary - drug therapy</subject><subject>Neoplasms, Multiple Primary - genetics</subject><subject>Neurofibromatosis 1 - genetics</subject><subject>neurofibromatosis type 1</subject><subject>Optic glioma</subject><subject>Optic Nerve Glioma - diagnosis</subject><subject>Optic Nerve Glioma - drug therapy</subject><subject>Optic Nerve Glioma - genetics</subject><subject>Point Mutation</subject><subject>Siblings</subject><subject>Vincristine - administration & dosage</subject><issn>1545-5009</issn><issn>1545-5017</issn><issn>1096-911X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1v1DAQQC0EoqVw4A8gn5A4pB3ny_GxrOgXVYuqAhIXy07GuwYnTm2H7f77hu5STpxmRnrzDo-QtwwOGUB-NOr2MGd5UT4j-6wqq6wCxp8_7SD2yKsYf85oDVXzkuwxXrGSF2yf3B3Twf9GR_spqWT9QO1A0wrp1QmjSxzw8V57Gq12dlhGurZpRQecgjdWB9-r5KONNG1GpIyqoaPaOpUwKEf9mGxLR5VWa7WhS2dn_DV5YZSL-GY3D8jXk0-3i7Ps8vr0fHF8mbWFyMsMu6JTXAjWiAqQNTkarWvegkZhgKGAsmFNyWtWaEAwtcjBtEVroDZdXZnigLzfesfg7yaMSfY2tuicGtBPUeZQ5wIaPoMftmAbfIwBjRyD7VXYSAbyT18595WPfWf23U466R67f-Qu6AwcbYG1dbj5v0l--bj4q8y2HzYmvH_6UOGXrHnBK_n96lRe3MKPm_LzjfxWPAAZ7ZQb</recordid><startdate>200803</startdate><enddate>200803</enddate><creator>Kebudi, Rejin</creator><creator>Tuncer, Samuray</creator><creator>Upadhyaya, Meena</creator><creator>Peksayar, Gonul</creator><creator>Spurlock, Gill</creator><creator>Yazici, Hulya</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>200803</creationdate><title>A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma</title><author>Kebudi, Rejin ; Tuncer, Samuray ; Upadhyaya, Meena ; Peksayar, Gonul ; Spurlock, Gill ; Yazici, Hulya</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3924-ed3da79918950e182efbb67c0be9f01e90481847613b0e0f6920fc3cf06fd65f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adult</topic><topic>Antineoplastic Combined Chemotherapy Protocols - therapeutic use</topic><topic>Base Sequence</topic><topic>Carboplatin - administration & dosage</topic><topic>Carboplatin - adverse effects</topic><topic>Child, Preschool</topic><topic>Codon, Nonsense</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>gene mutation</topic><topic>Genes, Neurofibromatosis 1</topic><topic>Germ-Line Mutation</topic><topic>Heteroduplex Analysis</topic><topic>Humans</topic><topic>Infant</topic><topic>Molecular Sequence Data</topic><topic>Neoplasms, Multiple Primary - diagnosis</topic><topic>Neoplasms, Multiple Primary - drug therapy</topic><topic>Neoplasms, Multiple Primary - genetics</topic><topic>Neurofibromatosis 1 - genetics</topic><topic>neurofibromatosis type 1</topic><topic>Optic glioma</topic><topic>Optic Nerve Glioma - diagnosis</topic><topic>Optic Nerve Glioma - drug therapy</topic><topic>Optic Nerve Glioma - genetics</topic><topic>Point Mutation</topic><topic>Siblings</topic><topic>Vincristine - administration & dosage</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kebudi, Rejin</creatorcontrib><creatorcontrib>Tuncer, Samuray</creatorcontrib><creatorcontrib>Upadhyaya, Meena</creatorcontrib><creatorcontrib>Peksayar, Gonul</creatorcontrib><creatorcontrib>Spurlock, Gill</creatorcontrib><creatorcontrib>Yazici, Hulya</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Pediatric Blood & Cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kebudi, Rejin</au><au>Tuncer, Samuray</au><au>Upadhyaya, Meena</au><au>Peksayar, Gonul</au><au>Spurlock, Gill</au><au>Yazici, Hulya</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma</atitle><jtitle>Pediatric Blood & Cancer</jtitle><addtitle>Pediatr. Blood Cancer</addtitle><date>2008-03</date><risdate>2008</risdate><volume>50</volume><issue>3</issue><spage>713</spage><epage>715</epage><pages>713-715</pages><issn>1545-5009</issn><eissn>1545-5017</eissn><eissn>1096-911X</eissn><abstract>We present the clinical and ophthalmological findings, genetic analysis, and therapy of two siblings with NF1 and bilateral OPG. In genetic analysis, a heteroduplex profile was detected in exon 4b of the NF1 gene for the affected patients and mother. Sequencing of the DNA samples identified a C > T nucleotide change in exon 4b (c484CAG > TAG). This nonsense mutation resulted in a change of glutamine to a stop codon (Q162X) and is a novel NF1 gene alteration. Pediatr Blood Cancer 2008;50:713–715. © 2007 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>17514731</pmid><doi>10.1002/pbc.21234</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1545-5009 |
| ispartof | Pediatric Blood & Cancer, 2008-03, Vol.50 (3), p.713-715 |
| issn | 1545-5009 1545-5017 1096-911X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_20629087 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adult Antineoplastic Combined Chemotherapy Protocols - therapeutic use Base Sequence Carboplatin - administration & dosage Carboplatin - adverse effects Child, Preschool Codon, Nonsense Exons - genetics Female gene mutation Genes, Neurofibromatosis 1 Germ-Line Mutation Heteroduplex Analysis Humans Infant Molecular Sequence Data Neoplasms, Multiple Primary - diagnosis Neoplasms, Multiple Primary - drug therapy Neoplasms, Multiple Primary - genetics Neurofibromatosis 1 - genetics neurofibromatosis type 1 Optic glioma Optic Nerve Glioma - diagnosis Optic Nerve Glioma - drug therapy Optic Nerve Glioma - genetics Point Mutation Siblings Vincristine - administration & dosage |
| title | A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-17T22%3A15%3A41IST&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=A%20novel%20mutation%20in%20the%20NF1%20gene%20in%20two%20siblings%20with%20neurofibromatosis%20type%201%20and%20bilateral%20optic%20pathway%20glioma&rft.jtitle=Pediatric%20Blood%20&%20Cancer&rft.au=Kebudi,%20Rejin&rft.date=2008-03&rft.volume=50&rft.issue=3&rft.spage=713&rft.epage=715&rft.pages=713-715&rft.issn=1545-5009&rft.eissn=1545-5017&rft_id=info:doi/10.1002/pbc.21234&rft_dat=%3Cproquest_cross%3E20629087%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=20629087&rft_id=info:pmid/17514731&rfr_iscdi=true |