Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification
Background: Neurofibromatosis type 2 (NF2) is almost unique among inherited disorders in the frequency of mosaicism in the first affected generation. However, the implications of this on transmission risks have not been fully elucidated. Methods: The expanded database of 460 families with NF2 and 70...
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| Veröffentlicht in: | Journal of medical genetics 2007-07, Vol.44 (7), p.424-428 |
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| creator | Evans, D Gareth R Ramsden, R T Shenton, A Gokhale, C Bowers, N L Huson, S M Pichert, G Wallace, A |
| description | Background: Neurofibromatosis type 2 (NF2) is almost unique among inherited disorders in the frequency of mosaicism in the first affected generation. However, the implications of this on transmission risks have not been fully elucidated. Methods: The expanded database of 460 families with NF2 and 704 affected individuals was analysed for mosaicism and transmission risks to offspring. Results: 64 mosaic patients, with a projected mosaicism rate of 33% for sporadic classical NF2 with bilateral vestibular schwannoma at presentation and 60% for those presenting unilaterally, were identified. Offspring risks can be radically reduced on the basis of a sensitive mutation analysis of blood DNA including multiple ligation-dependent probe amplification (MLPA, which detects 15% of all mutations), but even MLPA cannot detect high levels of mosaicism. Conclusion: The chances of mosaicism in NF2 and the resultant risks of transmission of the mutation to offspring in a number of different clinical situations have been further delineated. The use of MLPA in this large NF2 series is also reported for the first time. |
| doi_str_mv | 10.1136/jmg.2006.047753 |
| format | Article |
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However, the implications of this on transmission risks have not been fully elucidated. Methods: The expanded database of 460 families with NF2 and 704 affected individuals was analysed for mosaicism and transmission risks to offspring. Results: 64 mosaic patients, with a projected mosaicism rate of 33% for sporadic classical NF2 with bilateral vestibular schwannoma at presentation and 60% for those presenting unilaterally, were identified. Offspring risks can be radically reduced on the basis of a sensitive mutation analysis of blood DNA including multiple ligation-dependent probe amplification (MLPA, which detects 15% of all mutations), but even MLPA cannot detect high levels of mosaicism. Conclusion: The chances of mosaicism in NF2 and the resultant risks of transmission of the mutation to offspring in a number of different clinical situations have been further delineated. The use of MLPA in this large NF2 series is also reported for the first time.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.2006.047753</identifier><identifier>PMID: 17307835</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Biological and medical sciences ; Deoxyribonucleic acid ; DNA ; DNA Mutational Analysis ; FISH ; fluorescence in situ hybridisation ; Fundamental and applied biological sciences. Psychology ; General aspects. Genetic counseling ; Genetic Predisposition to Disease ; Genetics of eukaryotes. Biological and molecular evolution ; Humans ; In Situ Hybridization, Fluorescence ; Lymphocytes ; Medical genetics ; Medical sciences ; MLPA ; Molecular and cellular biology ; Molecular Probe Techniques ; Mosaicism ; multiple ligation-dependent probe amplification ; Mutation ; Neurofibromatosis 2 - complications ; Neurofibromatosis 2 - genetics ; neurofibromatosis type 2 ; Neurology ; Neuroma, Acoustic - etiology ; NF2 ; Nucleic Acid Amplification Techniques ; Original ; Patients ; Pedigree ; Polymorphism, Single-Stranded Conformational ; Risk Assessment ; Tumors ; Tumors of the nervous system. Phacomatoses ; unilateral vestibular schwannoma ; UVS ; vestibular schwannoma</subject><ispartof>Journal of medical genetics, 2007-07, Vol.44 (7), p.424-428</ispartof><rights>Copyright 2007 Journal of Medical Genetics</rights><rights>2007 INIST-CNRS</rights><rights>Copyright: 2007 Copyright 2007 Journal of Medical Genetics</rights><rights>Copyright © 2007 BMJ Publishing Group Ltd</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b645t-94520f77c0dae5593752e9a74efebd297b80ce99f5e2eaaf60480fff6f45aaa53</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://jmg.bmj.com/content/44/7/424.full.pdf$$EPDF$$P50$$Gbmj$$H</linktopdf><linktohtml>$$Uhttps://jmg.bmj.com/content/44/7/424.full$$EHTML$$P50$$Gbmj$$H</linktohtml><link.rule.ids>114,115,230,314,723,776,780,881,3183,23550,27901,27902,53766,53768,77569,77600</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18860187$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17307835$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Evans, D Gareth R</creatorcontrib><creatorcontrib>Ramsden, R T</creatorcontrib><creatorcontrib>Shenton, A</creatorcontrib><creatorcontrib>Gokhale, C</creatorcontrib><creatorcontrib>Bowers, N L</creatorcontrib><creatorcontrib>Huson, S M</creatorcontrib><creatorcontrib>Pichert, G</creatorcontrib><creatorcontrib>Wallace, A</creatorcontrib><title>Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Background: Neurofibromatosis type 2 (NF2) is almost unique among inherited disorders in the frequency of mosaicism in the first affected generation. However, the implications of this on transmission risks have not been fully elucidated. Methods: The expanded database of 460 families with NF2 and 704 affected individuals was analysed for mosaicism and transmission risks to offspring. Results: 64 mosaic patients, with a projected mosaicism rate of 33% for sporadic classical NF2 with bilateral vestibular schwannoma at presentation and 60% for those presenting unilaterally, were identified. Offspring risks can be radically reduced on the basis of a sensitive mutation analysis of blood DNA including multiple ligation-dependent probe amplification (MLPA, which detects 15% of all mutations), but even MLPA cannot detect high levels of mosaicism. Conclusion: The chances of mosaicism in NF2 and the resultant risks of transmission of the mutation to offspring in a number of different clinical situations have been further delineated. The use of MLPA in this large NF2 series is also reported for the first time.</description><subject>Biological and medical sciences</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA Mutational Analysis</subject><subject>FISH</subject><subject>fluorescence in situ hybridisation</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>General aspects. Genetic counseling</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Lymphocytes</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>MLPA</subject><subject>Molecular and cellular biology</subject><subject>Molecular Probe Techniques</subject><subject>Mosaicism</subject><subject>multiple ligation-dependent probe amplification</subject><subject>Mutation</subject><subject>Neurofibromatosis 2 - complications</subject><subject>Neurofibromatosis 2 - genetics</subject><subject>neurofibromatosis type 2</subject><subject>Neurology</subject><subject>Neuroma, Acoustic - etiology</subject><subject>NF2</subject><subject>Nucleic Acid Amplification Techniques</subject><subject>Original</subject><subject>Patients</subject><subject>Pedigree</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Risk Assessment</subject><subject>Tumors</subject><subject>Tumors of the nervous system. 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Psychology</topic><topic>General aspects. Genetic counseling</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Lymphocytes</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>MLPA</topic><topic>Molecular and cellular biology</topic><topic>Molecular Probe Techniques</topic><topic>Mosaicism</topic><topic>multiple ligation-dependent probe amplification</topic><topic>Mutation</topic><topic>Neurofibromatosis 2 - complications</topic><topic>Neurofibromatosis 2 - genetics</topic><topic>neurofibromatosis type 2</topic><topic>Neurology</topic><topic>Neuroma, Acoustic - etiology</topic><topic>NF2</topic><topic>Nucleic Acid Amplification Techniques</topic><topic>Original</topic><topic>Patients</topic><topic>Pedigree</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Risk Assessment</topic><topic>Tumors</topic><topic>Tumors of the nervous system. Phacomatoses</topic><topic>unilateral vestibular schwannoma</topic><topic>UVS</topic><topic>vestibular schwannoma</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Evans, D Gareth R</creatorcontrib><creatorcontrib>Ramsden, R T</creatorcontrib><creatorcontrib>Shenton, A</creatorcontrib><creatorcontrib>Gokhale, C</creatorcontrib><creatorcontrib>Bowers, N L</creatorcontrib><creatorcontrib>Huson, S M</creatorcontrib><creatorcontrib>Pichert, G</creatorcontrib><creatorcontrib>Wallace, A</creatorcontrib><collection>Istex</collection><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>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest Central (New)</collection><collection>ProQuest One Academic (New)</collection><collection>ProQuest Health & Medical Research Collection</collection><collection>ProQuest One Academic Middle East (New)</collection><collection>ProQuest One Health & Nursing</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Applied & Life Sciences</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Evans, D Gareth R</au><au>Ramsden, R T</au><au>Shenton, A</au><au>Gokhale, C</au><au>Bowers, N L</au><au>Huson, S M</au><au>Pichert, G</au><au>Wallace, A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2007-07-01</date><risdate>2007</risdate><volume>44</volume><issue>7</issue><spage>424</spage><epage>428</epage><pages>424-428</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Background: Neurofibromatosis type 2 (NF2) is almost unique among inherited disorders in the frequency of mosaicism in the first affected generation. However, the implications of this on transmission risks have not been fully elucidated. Methods: The expanded database of 460 families with NF2 and 704 affected individuals was analysed for mosaicism and transmission risks to offspring. Results: 64 mosaic patients, with a projected mosaicism rate of 33% for sporadic classical NF2 with bilateral vestibular schwannoma at presentation and 60% for those presenting unilaterally, were identified. Offspring risks can be radically reduced on the basis of a sensitive mutation analysis of blood DNA including multiple ligation-dependent probe amplification (MLPA, which detects 15% of all mutations), but even MLPA cannot detect high levels of mosaicism. Conclusion: The chances of mosaicism in NF2 and the resultant risks of transmission of the mutation to offspring in a number of different clinical situations have been further delineated. The use of MLPA in this large NF2 series is also reported for the first time.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>17307835</pmid><doi>10.1136/jmg.2006.047753</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; BMJ Journals - NESLi2; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Biological and medical sciences Deoxyribonucleic acid DNA DNA Mutational Analysis FISH fluorescence in situ hybridisation Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Humans In Situ Hybridization, Fluorescence Lymphocytes Medical genetics Medical sciences MLPA Molecular and cellular biology Molecular Probe Techniques Mosaicism multiple ligation-dependent probe amplification Mutation Neurofibromatosis 2 - complications Neurofibromatosis 2 - genetics neurofibromatosis type 2 Neurology Neuroma, Acoustic - etiology NF2 Nucleic Acid Amplification Techniques Original Patients Pedigree Polymorphism, Single-Stranded Conformational Risk Assessment Tumors Tumors of the nervous system. Phacomatoses unilateral vestibular schwannoma UVS vestibular schwannoma |
| title | Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification |
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