Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2
The case of a seriously disabled and retarded female patient with neurofibromatosis type 2 (NF2) is reported. She suffered from bilateral vestibular schwannomas, multiple intracranial meningiomas and neurinomas. The constitutional karyotype of the patient was 46, XX, r(22)/45,XX,-22. A constitutiona...
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| Veröffentlicht in: | Human genetics 1997-07, Vol.100 (1), p.67-74 |
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| container_title | Human genetics |
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| creator | KEHRER-SAWATZKI, H UDART, M KRONE, W BADEN, R FAHSOLD, R THOMAS, G SCHMUCKER, B ASSUM, G |
| description | The case of a seriously disabled and retarded female patient with neurofibromatosis type 2 (NF2) is reported. She suffered from bilateral vestibular schwannomas, multiple intracranial meningiomas and neurinomas. The constitutional karyotype of the patient was 46, XX, r(22)/45,XX,-22. A constitutional G to A transition in the proximal 3' untranslated region of isoforms 1 and 2 was identified in the patient's NF2 gene and shown not to affect differential splicing or mRNA stability. The instability of the ring chromosome 22 with the associated loss of tumor suppressor genes on chromosome 22, in particular the loss of the NF2 gene, are assumed to have caused multiple tumorigenesis in this patient. |
| doi_str_mv | 10.1007/s004390050467 |
| format | Article |
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She suffered from bilateral vestibular schwannomas, multiple intracranial meningiomas and neurinomas. The constitutional karyotype of the patient was 46, XX, r(22)/45,XX,-22. A constitutional G to A transition in the proximal 3' untranslated region of isoforms 1 and 2 was identified in the patient's NF2 gene and shown not to affect differential splicing or mRNA stability. The instability of the ring chromosome 22 with the associated loss of tumor suppressor genes on chromosome 22, in particular the loss of the NF2 gene, are assumed to have caused multiple tumorigenesis in this patient.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s004390050467</identifier><identifier>PMID: 9225971</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Adult ; Alternative Splicing ; Amino Acid Sequence ; Base Sequence ; Biological and medical sciences ; Cells, Cultured ; Chromosomes, Human, Pair 22 ; DNA Mutational Analysis ; Female ; Gene Deletion ; Genes, Neurofibromatosis 2 ; Genes, Tumor Suppressor ; Humans ; Karyotyping ; Medical sciences ; Meningioma - genetics ; Molecular Sequence Data ; Mutation ; Neurilemmoma - genetics ; Neurofibromatosis 2 - genetics ; Neurology ; Ring Chromosomes ; Tumors of the nervous system. Phacomatoses</subject><ispartof>Human genetics, 1997-07, Vol.100 (1), p.67-74</ispartof><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c317t-a90a6ab235ed7e5ee1253037aa10e2d64797271a2929e4c39a9791541170596d3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2737037$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9225971$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>KEHRER-SAWATZKI, H</creatorcontrib><creatorcontrib>UDART, M</creatorcontrib><creatorcontrib>KRONE, W</creatorcontrib><creatorcontrib>BADEN, R</creatorcontrib><creatorcontrib>FAHSOLD, R</creatorcontrib><creatorcontrib>THOMAS, G</creatorcontrib><creatorcontrib>SCHMUCKER, B</creatorcontrib><creatorcontrib>ASSUM, G</creatorcontrib><title>Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>The case of a seriously disabled and retarded female patient with neurofibromatosis type 2 (NF2) is reported. She suffered from bilateral vestibular schwannomas, multiple intracranial meningiomas and neurinomas. The constitutional karyotype of the patient was 46, XX, r(22)/45,XX,-22. A constitutional G to A transition in the proximal 3' untranslated region of isoforms 1 and 2 was identified in the patient's NF2 gene and shown not to affect differential splicing or mRNA stability. The instability of the ring chromosome 22 with the associated loss of tumor suppressor genes on chromosome 22, in particular the loss of the NF2 gene, are assumed to have caused multiple tumorigenesis in this patient.</description><subject>Adult</subject><subject>Alternative Splicing</subject><subject>Amino Acid Sequence</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Cells, Cultured</subject><subject>Chromosomes, Human, Pair 22</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Genes, Neurofibromatosis 2</subject><subject>Genes, Tumor Suppressor</subject><subject>Humans</subject><subject>Karyotyping</subject><subject>Medical sciences</subject><subject>Meningioma - genetics</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Neurilemmoma - genetics</subject><subject>Neurofibromatosis 2 - genetics</subject><subject>Neurology</subject><subject>Ring Chromosomes</subject><subject>Tumors of the nervous system. Phacomatoses</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>eNpVkM1v1DAQxS0EKkvhyBHJB4TgEBh_xfiIKgpIBS5wjmaTSdcoiYPHEeydPxyXripx8dh6v_eseUI8VfBaAfg3DGBNAHBgW39P7JQ1ulEazH2xA2Ohab3yD8Uj5h8AygXtzsRZ0NoFr3biz-etYIlpwUliPY4cuV4GSb_XTMxVkVy2IRLLNMpyILnQltMY9znNWNINX44rSS1ffrnUr-Q1LSTjIlGuNZiWIn_FcqjPHJdr2R-qLXGaq0H_-6iaHosHI05MT07zXHy_fP_t4mNz9fXDp4t3V01vlC8NBsAW99o4Gjw5IqWdAeMRFZAeWuuD116hDjqQ7U3A4INyVikPLrSDORcvbnPXnH5uxKWbI_c0TbhQ2rirtHlrbahgcwv2OTFnGrs1xxnzsVPQ3bTe_dd65Z-dgrf9TMMdfaq56s9POnKP05hx6SPfYdobX_cwfwH-wogZ</recordid><startdate>19970701</startdate><enddate>19970701</enddate><creator>KEHRER-SAWATZKI, H</creator><creator>UDART, M</creator><creator>KRONE, W</creator><creator>BADEN, R</creator><creator>FAHSOLD, R</creator><creator>THOMAS, G</creator><creator>SCHMUCKER, B</creator><creator>ASSUM, G</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>19970701</creationdate><title>Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2</title><author>KEHRER-SAWATZKI, H ; UDART, M ; KRONE, W ; BADEN, R ; FAHSOLD, R ; THOMAS, G ; SCHMUCKER, B ; ASSUM, G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c317t-a90a6ab235ed7e5ee1253037aa10e2d64797271a2929e4c39a9791541170596d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adult</topic><topic>Alternative Splicing</topic><topic>Amino Acid Sequence</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Cells, Cultured</topic><topic>Chromosomes, Human, Pair 22</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Genes, Neurofibromatosis 2</topic><topic>Genes, Tumor Suppressor</topic><topic>Humans</topic><topic>Karyotyping</topic><topic>Medical sciences</topic><topic>Meningioma - genetics</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Neurilemmoma - genetics</topic><topic>Neurofibromatosis 2 - genetics</topic><topic>Neurology</topic><topic>Ring Chromosomes</topic><topic>Tumors of the nervous system. Phacomatoses</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>KEHRER-SAWATZKI, H</creatorcontrib><creatorcontrib>UDART, M</creatorcontrib><creatorcontrib>KRONE, W</creatorcontrib><creatorcontrib>BADEN, R</creatorcontrib><creatorcontrib>FAHSOLD, R</creatorcontrib><creatorcontrib>THOMAS, G</creatorcontrib><creatorcontrib>SCHMUCKER, B</creatorcontrib><creatorcontrib>ASSUM, G</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>KEHRER-SAWATZKI, H</au><au>UDART, M</au><au>KRONE, W</au><au>BADEN, R</au><au>FAHSOLD, R</au><au>THOMAS, G</au><au>SCHMUCKER, B</au><au>ASSUM, G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1997-07-01</date><risdate>1997</risdate><volume>100</volume><issue>1</issue><spage>67</spage><epage>74</epage><pages>67-74</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>The case of a seriously disabled and retarded female patient with neurofibromatosis type 2 (NF2) is reported. She suffered from bilateral vestibular schwannomas, multiple intracranial meningiomas and neurinomas. The constitutional karyotype of the patient was 46, XX, r(22)/45,XX,-22. A constitutional G to A transition in the proximal 3' untranslated region of isoforms 1 and 2 was identified in the patient's NF2 gene and shown not to affect differential splicing or mRNA stability. The instability of the ring chromosome 22 with the associated loss of tumor suppressor genes on chromosome 22, in particular the loss of the NF2 gene, are assumed to have caused multiple tumorigenesis in this patient.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>9225971</pmid><doi>10.1007/s004390050467</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1997-07, Vol.100 (1), p.67-74 |
| issn | 0340-6717 1432-1203 |
| language | eng |
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| source | MEDLINE; Springer Journals |
| subjects | Adult Alternative Splicing Amino Acid Sequence Base Sequence Biological and medical sciences Cells, Cultured Chromosomes, Human, Pair 22 DNA Mutational Analysis Female Gene Deletion Genes, Neurofibromatosis 2 Genes, Tumor Suppressor Humans Karyotyping Medical sciences Meningioma - genetics Molecular Sequence Data Mutation Neurilemmoma - genetics Neurofibromatosis 2 - genetics Neurology Ring Chromosomes Tumors of the nervous system. Phacomatoses |
| title | Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2 |
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